Canonical Allele Identifier: CA10589635

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266498
• ClinVar RCV Id: RCV000257177
• dbSNP Id: rs1555580648
• MyVariant Identifiers: chr17:g.41222990_41223071del (hg19) ; chr17:g.43070973_43071054del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070975_43071056del , CM000679.2:g.43070975_43071056del	GRCh38
NC_000017.10:g.41222992_41223073del , CM000679.1:g.41222992_41223073del	GRCh37
NC_000017.9:g.38476518_38476599del	NCBI36
NG_005905.2:g.146930_147011del , LRG_292:g.146930_147011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4857_4938del	ENSP00000417241.2:p.Asp1620LysfsTer10
ENST00000470026.6:c.4860_4941del	ENSP00000419274.2:p.Asp1621LysfsTer10
ENST00000473961.6:c.4734_4815del	ENSP00000420201.2:p.Asp1579LysfsTer10
ENST00000476777.6:c.4854_4935del	ENSP00000417554.2:p.Asp1619LysfsTer10
ENST00000477152.6:c.4782_4863del	ENSP00000419988.2:p.Asp1595LysfsTer10
ENST00000478531.6:c.1548_1629del	ENSP00000420412.2:p.Asp517LysfsTer10
ENST00000489037.2:c.4782_4863del	ENSP00000420781.2:p.Asp1595LysfsTer10
ENST00000493919.6:c.1410_1491del	ENSP00000418819.2:p.Asp471LysfsTer10
ENST00000494123.6:c.4860_4941del	ENSP00000419103.2:p.Asp1621LysfsTer10
ENST00000497488.2:c.3972_4053del	ENSP00000418986.2:p.Asp1325LysfsTer10
ENST00000618469.2:c.4860_4941del	ENSP00000478114.2:p.Asp1621LysfsTer10
ENST00000634433.2:c.4737_4818del	ENSP00000489431.2:p.Asp1580LysfsTer10
ENST00000644379.2:c.4926_5007del	ENSP00000496570.2:p.Asp1643LysfsTer10
ENST00000644555.2:c.1410_1491del	ENSP00000494614.2:p.Asp471LysfsTer10
ENST00000652672.2:c.4719_4800del	ENSP00000498906.2:p.Asp1574LysfsTer10
ENST00000484087.6:c.1422_1503del	ENSP00000419481.2:p.Asp475LysfsTer10
ENST00000700182.1:c.1467_1548del	ENSP00000514849.1:p.Asp490LysfsTer10
ENST00000357654.9:c.4860_4941del MANE Select	ENSP00000350283.3:p.Asp1621LysfsTer10
ENST00000471181.7:c.4923_5004del	ENSP00000418960.2:p.Asp1642LysfsTer10
ENST00000644379.1:c.1247_1328del
ENST00000352993.7:c.1434_1515del	ENSP00000312236.5:p.Asp479LysfsTer10
ENST00000357654.7:c.4860_4941del	ENSP00000350283.3:p.Asp1621LysfsTer10
ENST00000461221.5:c.*4643_*4724del	ENSP00000418548.1:n.*4643_*4724del
ENST00000468300.5:c.1548_1629del	ENSP00000417148.1:p.Asp517LysfsTer10
ENST00000471181.6:c.4923_5004del	ENSP00000418960.2:p.Asp1642LysfsTer10
ENST00000472490.1:n.13_94del
ENST00000478531.5:c.1548_1629del	ENSP00000420412.1:p.Asp517LysfsTer10
ENST00000484087.5:c.1173_1254del	ENSP00000419481.1:p.Asp392LysfsTer10
ENST00000491747.6:c.1548_1629del	ENSP00000420705.2:p.Asp517LysfsTer10
ENST00000493795.5:c.4719_4800del	ENSP00000418775.1:p.Asp1574LysfsTer10
ENST00000493919.5:c.1410_1491del	ENSP00000418819.1:p.Asp471LysfsTer10
ENST00000586385.5:c.5-7103_5-7022del	ENSP00000465818.1:n.5-7103_5-7022del
ENST00000591534.5:c.333_414del	ENSP00000467329.1:p.Asp112LysfsTer10
ENST00000591849.5:c.-98-20864_-98-20783del	ENSP00000465347.1:n.-98-20864_-98-20783de...
NM_007294.3:c.4860_4941del , LRG_292t1:c.4860_4941del	NP_009225.1:p.Asp1621LysfsTer10
NM_007297.3:c.4719_4800del	NP_009228.2:p.Asp1574LysfsTer10
NM_007298.3:c.1548_1629del	NP_009229.2:p.Asp517LysfsTer10
NM_007299.3:c.1548_1629del	NP_009230.2:p.Asp517LysfsTer10
NM_007300.3:c.4923_5004del	NP_009231.2:p.Asp1642LysfsTer10
NR_027676.1:n.4996_5077del
NM_007294.4:c.4860_4941del MANE Select	NP_009225.1:p.Asp1621LysfsTer10
NM_007297.4:c.4719_4800del	NP_009228.2:p.Asp1574LysfsTer10
NM_007299.4:c.1548_1629del	NP_009230.2:p.Asp517LysfsTer10
NM_007300.4:c.4923_5004del	NP_009231.2:p.Asp1642LysfsTer10
NR_027676.2:n.5037_5118del