Canonical Allele Identifier: CA10589637

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266503
• ClinVar RCV Id: RCV000257247
• dbSNP Id: rs886040255
• MyVariant Identifiers: chr17:g.41223038_41223044del (hg19) ; chr17:g.43071021_43071027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071021_43071027del , CM000679.2:g.43071021_43071027del	GRCh38
NC_000017.10:g.41223038_41223044del , CM000679.1:g.41223038_41223044del	GRCh37
NC_000017.9:g.38476564_38476570del	NCBI36
NG_005905.2:g.146957_146963del , LRG_292:g.146957_146963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4884_4890del	ENSP00000417241.2:p.Glu1629Ter
ENST00000470026.6:c.4887_4893del	ENSP00000419274.2:p.Glu1630Ter
ENST00000473961.6:c.4761_4767del	ENSP00000420201.2:p.Glu1588Ter
ENST00000476777.6:c.4881_4887del	ENSP00000417554.2:p.Glu1628Ter
ENST00000477152.6:c.4809_4815del	ENSP00000419988.2:p.Glu1604Ter
ENST00000478531.6:c.1575_1581del	ENSP00000420412.2:p.Glu526Ter
ENST00000489037.2:c.4809_4815del	ENSP00000420781.2:p.Glu1604Ter
ENST00000493919.6:c.1437_1443del	ENSP00000418819.2:p.Glu480Ter
ENST00000494123.6:c.4887_4893del	ENSP00000419103.2:p.Glu1630Ter
ENST00000497488.2:c.3999_4005del	ENSP00000418986.2:p.Glu1334Ter
ENST00000618469.2:c.4887_4893del	ENSP00000478114.2:p.Glu1630Ter
ENST00000634433.2:c.4764_4770del	ENSP00000489431.2:p.Glu1589Ter
ENST00000644379.2:c.4953_4959del	ENSP00000496570.2:p.Glu1652Ter
ENST00000644555.2:c.1437_1443del	ENSP00000494614.2:p.Glu480Ter
ENST00000652672.2:c.4746_4752del	ENSP00000498906.2:p.Glu1583Ter
ENST00000484087.6:c.1449_1455del	ENSP00000419481.2:p.Glu484Ter
ENST00000700182.1:c.1494_1500del	ENSP00000514849.1:p.Glu499Ter
ENST00000357654.9:c.4887_4893del MANE Select	ENSP00000350283.3:p.Glu1630Ter
ENST00000471181.7:c.4950_4956del	ENSP00000418960.2:p.Glu1651Ter
ENST00000644379.1:c.1274_1280del
ENST00000352993.7:c.1461_1467del	ENSP00000312236.5:p.Glu488Ter
ENST00000357654.7:c.4887_4893del	ENSP00000350283.3:p.Glu1630Ter
ENST00000461221.5:c.*4670_*4676del	ENSP00000418548.1:n.*4670_*4676del
ENST00000468300.5:c.1575_1581del	ENSP00000417148.1:p.Glu526Ter
ENST00000471181.6:c.4950_4956del	ENSP00000418960.2:p.Glu1651Ter
ENST00000472490.1:n.40_46del
ENST00000478531.5:c.1575_1581del	ENSP00000420412.1:p.Glu526Ter
ENST00000484087.5:c.1200_1206del	ENSP00000419481.1:p.Glu401Ter
ENST00000491747.6:c.1575_1581del	ENSP00000420705.2:p.Glu526Ter
ENST00000493795.5:c.4746_4752del	ENSP00000418775.1:p.Glu1583Ter
ENST00000493919.5:c.1437_1443del	ENSP00000418819.1:p.Glu480Ter
ENST00000586385.5:c.5-7076_5-7070del	ENSP00000465818.1:n.5-7076_5-7070del
ENST00000591534.5:c.360_366del	ENSP00000467329.1:p.Glu121Ter
ENST00000591849.5:c.-98-20837_-98-20831del	ENSP00000465347.1:n.-98-20837_-98-20831del
NM_007294.3:c.4887_4893del , LRG_292t1:c.4887_4893del	NP_009225.1:p.Glu1630Ter
NM_007297.3:c.4746_4752del	NP_009228.2:p.Glu1583Ter
NM_007298.3:c.1575_1581del	NP_009229.2:p.Glu526Ter
NM_007299.3:c.1575_1581del	NP_009230.2:p.Glu526Ter
NM_007300.3:c.4950_4956del	NP_009231.2:p.Glu1651Ter
NR_027676.1:n.5023_5029del
NM_007294.4:c.4887_4893del MANE Select	NP_009225.1:p.Glu1630Ter
NM_007297.4:c.4746_4752del	NP_009228.2:p.Glu1583Ter
NM_007299.4:c.1575_1581del	NP_009230.2:p.Glu526Ter
NM_007300.4:c.4950_4956del	NP_009231.2:p.Glu1651Ter
NR_027676.2:n.5064_5070del