Canonical Allele Identifier: CA983888832

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1730472
• ClinVar RCV Id: RCV002326648
• dbSNP Id: rs2053603077
• gnomAD v3: 17-43092180-AACT-A
• gnomAD v4: 17-43092180-AACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092184_43092186del , CM000679.2:g.43092184_43092186del	GRCh38
NC_000017.10:g.41244201_41244203del , CM000679.1:g.41244201_41244203del	GRCh37
NC_000017.9:g.38497727_38497729del	NCBI36
NG_005905.2:g.125801_125803del , LRG_292:g.125801_125803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3412_3414del
ENST00000461574.2:c.3348_3350del	ENSP00000417241.2:p.Val1117del
ENST00000470026.6:c.3348_3350del	ENSP00000419274.2:p.Val1117del
ENST00000473961.6:c.3222_3224del	ENSP00000420201.2:p.Val1075del
ENST00000476777.6:c.3345_3347del	ENSP00000417554.2:p.Val1116del
ENST00000477152.6:c.3270_3272del	ENSP00000419988.2:p.Val1091del
ENST00000478531.6:c.785-1151_785-1149del	ENSP00000420412.2:n.785-1151_785-1149del
ENST00000489037.2:c.3270_3272del	ENSP00000420781.2:p.Val1091del
ENST00000493919.6:c.647-1151_647-1149del	ENSP00000418819.2:n.647-1151_647-1149del
ENST00000494123.6:c.3348_3350del	ENSP00000419103.2:p.Val1117del
ENST00000497488.2:c.2460_2462del	ENSP00000418986.2:p.Val821del
ENST00000618469.2:c.3348_3350del	ENSP00000478114.2:p.Val1117del
ENST00000634433.2:c.3225_3227del	ENSP00000489431.2:p.Val1076del
ENST00000644379.2:c.3348_3350del	ENSP00000496570.2:p.Val1117del
ENST00000644555.2:c.647-1151_647-1149del	ENSP00000494614.2:n.647-1151_647-1149del
ENST00000652672.2:c.3207_3209del	ENSP00000498906.2:p.Val1070del
ENST00000484087.6:c.665-1151_665-1149del	ENSP00000419481.2:n.665-1151_665-1149del
ENST00000700182.1:c.707-1151_707-1149del	ENSP00000514849.1:n.707-1151_707-1149del
ENST00000357654.9:c.3348_3350del MANE Select	ENSP00000350283.3:p.Val1117del
ENST00000471181.7:c.3348_3350del	ENSP00000418960.2:p.Val1117del
ENST00000352993.7:c.671-1151_671-1149del	ENSP00000312236.5:n.671-1151_671-1149del
ENST00000354071.7:c.3348_3350del	ENSP00000326002.7:p.Val1117del
ENST00000357654.7:c.3348_3350del	ENSP00000350283.3:p.Val1117del
ENST00000461221.5:c.*3131_*3133del	ENSP00000418548.1:n.*3131_*3133del
ENST00000468300.5:c.788-1151_788-1149del	ENSP00000417148.1:n.788-1151_788-1149del
ENST00000471181.6:c.3348_3350del	ENSP00000418960.2:p.Val1117del
ENST00000478531.5:c.785-1151_785-1149del	ENSP00000420412.1:n.785-1151_785-1149del
ENST00000484087.5:c.410-1151_410-1149del	ENSP00000419481.1:n.410-1151_410-1149del
ENST00000487825.5:c.413-1151_413-1149del	ENSP00000418212.1:n.413-1151_413-1149del
ENST00000491747.6:c.788-1151_788-1149del	ENSP00000420705.2:n.788-1151_788-1149del
ENST00000493795.5:c.3207_3209del	ENSP00000418775.1:p.Val1070del
ENST00000493919.5:c.647-1151_647-1149del	ENSP00000418819.1:n.647-1151_647-1149del
ENST00000586385.5:c.5-28232_5-28230del	ENSP00000465818.1:n.5-28232_5-28230del
ENST00000591534.5:c.-43-17662_-43-17660del	ENSP00000467329.1:n.-43-17662_-43-17660de...
ENST00000591849.5:c.-99+33088_-99+33090del	ENSP00000465347.1:n.-99+33088_-99+33090de...
NM_007294.3:c.3348_3350del , LRG_292t1:c.3348_3350del	NP_009225.1:p.Val1117del
NM_007297.3:c.3207_3209del	NP_009228.2:p.Val1070del
NM_007298.3:c.788-1151_788-1149del	NP_009229.2:n.788-1151_788-1149del
NM_007299.3:c.788-1151_788-1149del	NP_009230.2:n.788-1151_788-1149del
NM_007300.3:c.3348_3350del	NP_009231.2:p.Val1117del
NR_027676.1:n.3484_3486del
NM_007294.4:c.3348_3350del MANE Select	NP_009225.1:p.Val1117del
NM_007297.4:c.3207_3209del	NP_009228.2:p.Val1070del
NM_007299.4:c.788-1151_788-1149del	NP_009230.2:n.788-1151_788-1149del
NM_007300.4:c.3348_3350del	NP_009231.2:p.Val1117del
NR_027676.2:n.3525_3527del