Canonical Allele Identifier: CA2260769491

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878_43063880delinsATA , CM000679.2:g.43063878_43063880delinsATA	GRCh38
NC_000017.10:g.41215895_41215897delinsATA , CM000679.1:g.41215895_41215897delinsATA	GRCh37
NC_000017.9:g.38469421_38469423delinsATA	NCBI36
NG_005905.2:g.154104_154106delinsTAT , LRG_292:g.154104_154106delinsTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5143_5145delinsTAT	ENSP00000417241.2:p.Tyr1715=
ENST00000470026.6:c.5146_5148delinsTAT	ENSP00000419274.2:p.Tyr1716=
ENST00000473961.6:c.5020_5022delinsTAT	ENSP00000420201.2:p.Tyr1674=
ENST00000476777.6:c.5140_5142delinsTAT	ENSP00000417554.2:p.Tyr1714=
ENST00000477152.6:c.5068_5070delinsTAT	ENSP00000419988.2:p.Tyr1690=
ENST00000478531.6:c.1834_1836delinsTAT	ENSP00000420412.2:p.Tyr612=
ENST00000489037.2:c.5068_5070delinsTAT	ENSP00000420781.2:p.Tyr1690=
ENST00000493919.6:c.1696_1698delinsTAT	ENSP00000418819.2:p.Tyr566=
ENST00000494123.6:c.5146_5148delinsTAT	ENSP00000419103.2:p.Tyr1716=
ENST00000497488.2:c.4258_4260delinsTAT	ENSP00000418986.2:p.Tyr1420=
ENST00000618469.2:c.5146_5148delinsTAT	ENSP00000478114.2:p.Tyr1716=
ENST00000634433.2:c.5023_5025delinsTAT	ENSP00000489431.2:p.Tyr1675=
ENST00000644379.2:c.5212_5214delinsTAT	ENSP00000496570.2:p.Tyr1738=
ENST00000644555.2:c.1696_1698delinsTAT	ENSP00000494614.2:p.Tyr566=
ENST00000652672.2:c.5005_5007delinsTAT	ENSP00000498906.2:p.Tyr1669=
ENST00000484087.6:c.1708_1710delinsTAT	ENSP00000419481.2:p.Tyr570=
ENST00000357654.9:c.5146_5148delinsTAT MANE Select	ENSP00000350283.3:p.Tyr1716=
ENST00000471181.7:c.5209_5211delinsTAT	ENSP00000418960.2:p.Tyr1737=
ENST00000644379.1:c.1533_1535delinsTAT
ENST00000352993.7:c.1720_1722delinsTAT	ENSP00000312236.5:p.Tyr574=
ENST00000357654.7:c.5146_5148delinsTAT	ENSP00000350283.3:p.Tyr1716=
ENST00000461221.5:c.*4929_*4931delinsTAT	ENSP00000418548.1:n.*4929_*4931delinsTAT
ENST00000468300.5:c.1834_1836delinsTAT	ENSP00000417148.1:p.Tyr612=
ENST00000471181.6:c.5209_5211delinsTAT	ENSP00000418960.2:p.Tyr1737=
ENST00000478531.5:c.1834_1836delinsTAT	ENSP00000420412.1:p.Tyr612=
ENST00000484087.5:c.1459_1461delinsTAT	ENSP00000419481.1:p.Tyr487=
ENST00000491747.6:c.1834_1836delinsTAT	ENSP00000420705.2:p.Tyr612=
ENST00000493795.5:c.5005_5007delinsTAT	ENSP00000418775.1:p.Tyr1669=
ENST00000493919.5:c.1696_1698delinsTAT	ENSP00000418819.1:p.Tyr566=
ENST00000586385.5:c.76_78delinsTAT	ENSP00000465818.1:p.Tyr26=
ENST00000591534.5:c.619_621delinsTAT	ENSP00000467329.1:p.Tyr207=
ENST00000591849.5:c.-98-13690_-98-13688delinsTAT	ENSP00000465347.1:n.-98-13690_-98-13688delinsTAT
NM_007294.3:c.5146_5148delinsTAT , LRG_292t1:c.5146_5148delinsTAT	NP_009225.1:p.Tyr1716=
NM_007297.3:c.5005_5007delinsTAT	NP_009228.2:p.Tyr1669=
NM_007298.3:c.1834_1836delinsTAT	NP_009229.2:p.Tyr612=
NM_007299.3:c.1834_1836delinsTAT	NP_009230.2:p.Tyr612=
NM_007300.3:c.5209_5211delinsTAT	NP_009231.2:p.Tyr1737=
NR_027676.1:n.5282_5284delinsTAT
NM_007294.4:c.5146_5148delinsTAT MANE Select	NP_009225.1:p.Tyr1716=
NM_007297.4:c.5005_5007delinsTAT	NP_009228.2:p.Tyr1669=
NM_007299.4:c.1834_1836delinsTAT	NP_009230.2:p.Tyr612=
NM_007300.4:c.5209_5211delinsTAT	NP_009231.2:p.Tyr1737=
NR_027676.2:n.5323_5325delinsTAT