Canonical Allele Identifier: CA919844492

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567789497

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091583del , CM000679.2:g.43091583del	GRCh38
NC_000017.10:g.41243600del , CM000679.1:g.41243600del	GRCh37
NC_000017.9:g.38497126del	NCBI36
NG_005905.2:g.126401del , LRG_292:g.126401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4012del
ENST00000461574.2:c.3948del	ENSP00000417241.2:p.Leu1317Ter
ENST00000470026.6:c.3948del	ENSP00000419274.2:p.Leu1317Ter
ENST00000473961.6:c.3822del	ENSP00000420201.2:p.Leu1275Ter
ENST00000476777.6:c.3945del	ENSP00000417554.2:p.Leu1316Ter
ENST00000477152.6:c.3870del	ENSP00000419988.2:p.Leu1291Ter
ENST00000478531.6:c.785-551del	ENSP00000420412.2:n.785-551del
ENST00000489037.2:c.3870del	ENSP00000420781.2:p.Leu1291Ter
ENST00000493919.6:c.647-551del	ENSP00000418819.2:n.647-551del
ENST00000494123.6:c.3948del	ENSP00000419103.2:p.Leu1317Ter
ENST00000497488.2:c.3060del	ENSP00000418986.2:p.Leu1021Ter
ENST00000618469.2:c.3948del	ENSP00000478114.2:p.Leu1317Ter
ENST00000634433.2:c.3825del	ENSP00000489431.2:p.Leu1276Ter
ENST00000644379.2:c.3948del	ENSP00000496570.2:p.Leu1317Ter
ENST00000644555.2:c.647-551del	ENSP00000494614.2:n.647-551del
ENST00000652672.2:c.3807del	ENSP00000498906.2:p.Leu1270Ter
ENST00000484087.6:c.665-551del	ENSP00000419481.2:n.665-551del
ENST00000700182.1:c.707-551del	ENSP00000514849.1:n.707-551del
ENST00000357654.9:c.3948del MANE Select	ENSP00000350283.3:p.Leu1317Ter
ENST00000471181.7:c.3948del	ENSP00000418960.2:p.Leu1317Ter
ENST00000644379.1:c.269del
ENST00000352993.7:c.671-551del	ENSP00000312236.5:n.671-551del
ENST00000354071.7:c.3948del	ENSP00000326002.7:p.Leu1317Ter
ENST00000357654.7:c.3948del	ENSP00000350283.3:p.Leu1317Ter
ENST00000461221.5:c.*3731del	ENSP00000418548.1:n.*3731del
ENST00000461574.1:c.242del
ENST00000468300.5:c.788-551del	ENSP00000417148.1:n.788-551del
ENST00000471181.6:c.3948del	ENSP00000418960.2:p.Leu1317Ter
ENST00000478531.5:c.785-551del	ENSP00000420412.1:n.785-551del
ENST00000484087.5:c.410-551del	ENSP00000419481.1:n.410-551del
ENST00000487825.5:c.413-551del	ENSP00000418212.1:n.413-551del
ENST00000491747.6:c.788-551del	ENSP00000420705.2:n.788-551del
ENST00000493795.5:c.3807del	ENSP00000418775.1:p.Leu1270Ter
ENST00000493919.5:c.647-551del	ENSP00000418819.1:n.647-551del
ENST00000586385.5:c.5-27632del	ENSP00000465818.1:n.5-27632del
ENST00000591534.5:c.-43-17062del	ENSP00000467329.1:n.-43-17062del
ENST00000591849.5:c.-99+33688del	ENSP00000465347.1:n.-99+33688del
NM_007294.3:c.3948del , LRG_292t1:c.3948del	NP_009225.1:p.Leu1317Ter
NM_007297.3:c.3807del	NP_009228.2:p.Leu1270Ter
NM_007298.3:c.788-551del	NP_009229.2:n.788-551del
NM_007299.3:c.788-551del	NP_009230.2:n.788-551del
NM_007300.3:c.3948del	NP_009231.2:p.Leu1317Ter
NR_027676.1:n.4084del
NM_007294.4:c.3948del MANE Select	NP_009225.1:p.Leu1317Ter
NM_007297.4:c.3807del	NP_009228.2:p.Leu1270Ter
NM_007299.4:c.788-551del	NP_009230.2:n.788-551del
NM_007300.4:c.3948del	NP_009231.2:p.Leu1317Ter
NR_027676.2:n.4125del