Canonical Allele Identifier: CA913190416

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 632677
• ClinVar RCV Id: RCV003158111
• dbSNP Id: rs1567793005

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092451_43092452delinsTC , CM000679.2:g.43092451_43092452delinsTC	GRCh38
NC_000017.10:g.41244468_41244469delinsTC , CM000679.1:g.41244468_41244469delinsTC	GRCh37
NC_000017.9:g.38497994_38497995delinsTC	NCBI36
NG_005905.2:g.125532_125533delinsGA , LRG_292:g.125532_125533delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3143_3144delinsGA
ENST00000461574.2:c.3079_3080delinsGA	ENSP00000417241.2:p.Ser1027Asp
ENST00000470026.6:c.3079_3080delinsGA	ENSP00000419274.2:p.Ser1027Asp
ENST00000473961.6:c.2953_2954delinsGA	ENSP00000420201.2:p.Ser985Asp
ENST00000476777.6:c.3076_3077delinsGA	ENSP00000417554.2:p.Ser1026Asp
ENST00000477152.6:c.3001_3002delinsGA	ENSP00000419988.2:p.Ser1001Asp
ENST00000478531.6:c.785-1420_785-1419delinsGA	ENSP00000420412.2:n.785-1420_785-1419delinsGA
ENST00000489037.2:c.3001_3002delinsGA	ENSP00000420781.2:p.Ser1001Asp
ENST00000493919.6:c.647-1420_647-1419delinsGA	ENSP00000418819.2:n.647-1420_647-1419delinsGA
ENST00000494123.6:c.3079_3080delinsGA	ENSP00000419103.2:p.Ser1027Asp
ENST00000497488.2:c.2191_2192delinsGA	ENSP00000418986.2:p.Ser731Asp
ENST00000618469.2:c.3079_3080delinsGA	ENSP00000478114.2:p.Ser1027Asp
ENST00000634433.2:c.2956_2957delinsGA	ENSP00000489431.2:p.Ser986Asp
ENST00000644379.2:c.3079_3080delinsGA	ENSP00000496570.2:p.Ser1027Asp
ENST00000644555.2:c.647-1420_647-1419delinsGA	ENSP00000494614.2:n.647-1420_647-1419delinsGA
ENST00000652672.2:c.2938_2939delinsGA	ENSP00000498906.2:p.Ser980Asp
ENST00000484087.6:c.665-1420_665-1419delinsGA	ENSP00000419481.2:n.665-1420_665-1419delinsGA
ENST00000700182.1:c.707-1420_707-1419delinsGA	ENSP00000514849.1:n.707-1420_707-1419delinsGA
ENST00000357654.9:c.3079_3080delinsGA MANE Select	ENSP00000350283.3:p.Ser1027Asp
ENST00000471181.7:c.3079_3080delinsGA	ENSP00000418960.2:p.Ser1027Asp
ENST00000352993.7:c.671-1420_671-1419delinsGA	ENSP00000312236.5:n.671-1420_671-1419delinsGA
ENST00000354071.7:c.3079_3080delinsGA	ENSP00000326002.7:p.Ser1027Asp
ENST00000357654.7:c.3079_3080delinsGA	ENSP00000350283.3:p.Ser1027Asp
ENST00000461221.5:c.*2862_*2863delinsGA	ENSP00000418548.1:n.*2862_*2863delinsGA
ENST00000468300.5:c.788-1420_788-1419delinsGA	ENSP00000417148.1:n.788-1420_788-1419delinsGA
ENST00000471181.6:c.3079_3080delinsGA	ENSP00000418960.2:p.Ser1027Asp
ENST00000478531.5:c.785-1420_785-1419delinsGA	ENSP00000420412.1:n.785-1420_785-1419delinsGA
ENST00000484087.5:c.410-1420_410-1419delinsGA	ENSP00000419481.1:n.410-1420_410-1419delinsGA
ENST00000487825.5:c.413-1420_413-1419delinsGA	ENSP00000418212.1:n.413-1420_413-1419delinsGA
ENST00000491747.6:c.788-1420_788-1419delinsGA	ENSP00000420705.2:n.788-1420_788-1419delinsGA
ENST00000493795.5:c.2938_2939delinsGA	ENSP00000418775.1:p.Ser980Asp
ENST00000493919.5:c.647-1420_647-1419delinsGA	ENSP00000418819.1:n.647-1420_647-1419delinsGA
ENST00000586385.5:c.5-28501_5-28500delinsGA	ENSP00000465818.1:n.5-28501_5-28500delinsGA
ENST00000591534.5:c.-43-17931_-43-17930delinsGA	ENSP00000467329.1:n.-43-17931_-43-17930delinsGA
ENST00000591849.5:c.-99+32819_-99+32820delinsGA	ENSP00000465347.1:n.-99+32819_-99+32820delinsGA
NM_007294.3:c.3079_3080delinsGA , LRG_292t1:c.3079_3080delinsGA	NP_009225.1:p.Ser1027Asp
NM_007297.3:c.2938_2939delinsGA	NP_009228.2:p.Ser980Asp
NM_007298.3:c.788-1420_788-1419delinsGA	NP_009229.2:n.788-1420_788-1419delinsGA
NM_007299.3:c.788-1420_788-1419delinsGA	NP_009230.2:n.788-1420_788-1419delinsGA
NM_007300.3:c.3079_3080delinsGA	NP_009231.2:p.Ser1027Asp
NR_027676.1:n.3215_3216delinsGA
NM_007294.4:c.3079_3080delinsGA MANE Select	NP_009225.1:p.Ser1027Asp
NM_007297.4:c.2938_2939delinsGA	NP_009228.2:p.Ser980Asp
NM_007299.4:c.788-1420_788-1419delinsGA	NP_009230.2:n.788-1420_788-1419delinsGA
NM_007300.4:c.3079_3080delinsGA	NP_009231.2:p.Ser1027Asp
NR_027676.2:n.3256_3257delinsGA