Canonical Allele Identifier: CA000827

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54177
• ClinVar RCV Id: RCV000111574 ; RCV000496803 ; RCV001010575
• dbSNP Id: rs80357535
• MyVariant Identifiers: chr17:g.41246293del (hg19) ; chr17:g.43094276del (hg38)
• PubMed: PMID:9667259

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094277del , CM000679.2:g.43094277del	GRCh38
NC_000017.10:g.41246294del , CM000679.1:g.41246294del	GRCh37
NC_000017.9:g.38499820del	NCBI36
NG_005905.2:g.123708del , LRG_292:g.123708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1319del
ENST00000461574.2:c.1255del	ENSP00000417241.2:p.Val419Ter
ENST00000470026.6:c.1255del	ENSP00000419274.2:p.Val419Ter
ENST00000473961.6:c.1129del	ENSP00000420201.2:p.Val377Ter
ENST00000476777.6:c.1252del	ENSP00000417554.2:p.Val418Ter
ENST00000477152.6:c.1177del	ENSP00000419988.2:p.Val393Ter
ENST00000478531.6:c.784+468del	ENSP00000420412.2:n.784+468del
ENST00000489037.2:c.1177del	ENSP00000420781.2:p.Val393Ter
ENST00000493919.6:c.646+468del	ENSP00000418819.2:n.646+468del
ENST00000494123.6:c.1255del	ENSP00000419103.2:p.Val419Ter
ENST00000497488.2:c.367del	ENSP00000418986.2:p.Val123Ter
ENST00000618469.2:c.1255del	ENSP00000478114.2:p.Val419Ter
ENST00000634433.2:c.1132del	ENSP00000489431.2:p.Val378Ter
ENST00000644379.2:c.1255del	ENSP00000496570.2:p.Val419Ter
ENST00000644555.2:c.646+468del	ENSP00000494614.2:n.646+468del
ENST00000652672.2:c.1114del	ENSP00000498906.2:p.Val372Ter
ENST00000484087.6:c.664+468del	ENSP00000419481.2:n.664+468del
ENST00000700182.1:c.706+468del	ENSP00000514849.1:n.706+468del
ENST00000700183.1:c.*1263del	ENSP00000514850.1:n.*1263del
ENST00000357654.9:c.1255del MANE Select	ENSP00000350283.3:p.Val419Ter
ENST00000471181.7:c.1255del	ENSP00000418960.2:p.Val419Ter
ENST00000652672.1:c.1114del	ENSP00000498906.1:p.Val372Ter
ENST00000352993.7:c.670+1570del	ENSP00000312236.5:n.670+1570del
ENST00000354071.7:c.1255del	ENSP00000326002.7:p.Val419Ter
ENST00000357654.7:c.1255del	ENSP00000350283.3:p.Val419Ter
ENST00000412061.3:c.606del
ENST00000461221.5:c.*1038del	ENSP00000418548.1:n.*1038del
ENST00000468300.5:c.787+468del	ENSP00000417148.1:n.787+468del
ENST00000470026.5:c.1255del	ENSP00000419274.1:p.Val419Ter
ENST00000471181.6:c.1255del	ENSP00000418960.2:p.Val419Ter
ENST00000473961.5:c.852del
ENST00000477152.5:c.1177del	ENSP00000419988.1:p.Val393Ter
ENST00000478531.5:c.784+468del	ENSP00000420412.1:n.784+468del
ENST00000484087.5:c.409+468del	ENSP00000419481.1:n.409+468del
ENST00000487825.5:c.412+468del	ENSP00000418212.1:n.412+468del
ENST00000491747.6:c.787+468del	ENSP00000420705.2:n.787+468del
ENST00000492859.5:c.*1191del	ENSP00000420253.1:n.*1191del
ENST00000493795.5:c.1114del	ENSP00000418775.1:p.Val372Ter
ENST00000493919.5:c.646+468del	ENSP00000418819.1:n.646+468del
ENST00000494123.5:c.1255del	ENSP00000419103.1:p.Val419Ter
ENST00000497488.1:c.367del	ENSP00000418986.1:p.Val123Ter
ENST00000586385.5:c.5-30325del	ENSP00000465818.1:n.5-30325del
ENST00000591534.5:c.-43-19755del	ENSP00000467329.1:n.-43-19755del
ENST00000591849.5:c.-99+30995del	ENSP00000465347.1:n.-99+30995del
ENST00000634433.1:c.1132del	ENSP00000489431.1:p.Val378Ter
NM_007294.3:c.1255del , LRG_292t1:c.1255del	NP_009225.1:p.Val419Ter
NM_007297.3:c.1114del	NP_009228.2:p.Val372Ter
NM_007298.3:c.787+468del	NP_009229.2:n.787+468del
NM_007299.3:c.787+468del	NP_009230.2:n.787+468del
NM_007300.3:c.1255del	NP_009231.2:p.Val419Ter
NR_027676.1:n.1391del
NM_007294.4:c.1255del MANE Select	NP_009225.1:p.Val419Ter
NM_007297.4:c.1114del	NP_009228.2:p.Val372Ter
NM_007299.4:c.787+468del	NP_009230.2:n.787+468del
NM_007300.4:c.1255del	NP_009231.2:p.Val419Ter
NR_027676.2:n.1432del