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HomeVariants

chr17:41244637 GTTTA>G

Annotations

GeneBRCA1
TranscriptNM_007294.4
cDNAc.2907_2910del
Proteinp.Lys970Metfs*29
Functionframeshift
Localizationexon
hg19chr17:41244637 GTTTA>G
dbSNP

Synonyms

TranscriptcDNAProtein
NM_007297.3c.2766_2769delp.N922fs
NM_007300.4c.2907_2910delp.Lys970Metfs*29
NM_007298.3c.788-1592_788-1589delTAAA
NM_007299.3c.788-1592_788-1589delTAAA
NR_027676.1n.3043_3046delTAAA

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS