Canonical Allele Identifier: CA3273046927

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047656_43047657delinsTA , CM000679.2:g.43047656_43047657delinsTA	GRCh38
NC_000017.10:g.41199673_41199674delinsTA , CM000679.1:g.41199673_41199674delinsTA	GRCh37
NC_000017.9:g.38453199_38453200delinsTA	NCBI36
NG_005905.2:g.170327_170328delinsTA , LRG_292:g.170327_170328delinsTA

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5453_5454delinsTA MANE Select	NP_009225.1:p.Asp1818Val
ENST00000357654.9:c.5453_5454delinsTA MANE Select	ENSP00000350283.3:p.Asp1818Val
NM_007294.3:c.5453_5454delinsTA , LRG_292t1:c.5453_5454delinsTA	NP_009225.1:p.Asp1818Val
NM_007297.3:c.5312_5313delinsTA	NP_009228.2:p.Asp1771Val
NM_007297.4:c.5312_5313delinsTA	NP_009228.2:p.Asp1771Val
NM_007298.3:c.2141_2142delinsTA	NP_009229.2:p.Asp714Val
NM_007299.3:c.2067_2068delinsTA	NP_009230.2:p.Gln690Lys
NM_007299.4:c.2067_2068delinsTA	NP_009230.2:p.Gln690Lys
NM_007300.3:c.5516_5517delinsTA	NP_009231.2:p.Asp1839Val
NM_007300.4:c.5516_5517delinsTA	NP_009231.2:p.Asp1839Val
NR_027676.1:n.5589_5590delinsTA
NR_027676.2:n.5630_5631delinsTA
ENST00000352993.7:c.2027_2028delinsTA	ENSP00000312236.5:p.Asp676Val
ENST00000357654.7:c.5453_5454delinsTA	ENSP00000350283.3:p.Asp1818Val
ENST00000461221.5:c.*5236_*5237delinsTA	ENSP00000418548.1:n.*5236_*5237delinsTA
ENST00000461574.2:c.5450_5451delinsTA	ENSP00000417241.2:p.Asp1817Val
ENST00000468300.5:c.2067_2068delinsTA	ENSP00000417148.1:p.Gln690Lys
ENST00000470026.6:c.5453_5454delinsTA	ENSP00000419274.2:p.Asp1818Val
ENST00000471181.6:c.5516_5517delinsTA	ENSP00000418960.2:p.Asp1839Val
ENST00000471181.7:c.5516_5517delinsTA	ENSP00000418960.2:p.Asp1839Val
ENST00000473961.6:c.5327_5328delinsTA	ENSP00000420201.2:p.Asp1776Val
ENST00000476777.6:c.5447_5448delinsTA	ENSP00000417554.2:p.Asp1816Val
ENST00000477152.6:c.5375_5376delinsTA	ENSP00000419988.2:p.Asp1792Val
ENST00000478531.6:c.2141_2142delinsTA	ENSP00000420412.2:p.Asp714Val
ENST00000484087.6:c.2015_2016delinsTA	ENSP00000419481.2:p.Asp672Val
ENST00000489037.2:c.5375_5376delinsTA	ENSP00000420781.2:p.Asp1792Val
ENST00000491747.6:c.2141_2142delinsTA	ENSP00000420705.2:p.Asp714Val
ENST00000493795.5:c.5312_5313delinsTA	ENSP00000418775.1:p.Asp1771Val
ENST00000493919.6:c.2003_2004delinsTA	ENSP00000418819.2:p.Asp668Val
ENST00000494123.6:c.5453_5454delinsTA	ENSP00000419103.2:p.Asp1818Val
ENST00000497488.2:c.4565_4566delinsTA	ENSP00000418986.2:p.Asp1522Val
ENST00000586385.5:c.383_384delinsTA	ENSP00000465818.1:p.Asp128Val
ENST00000591534.5:c.926_927delinsTA	ENSP00000467329.1:p.Asp309Val
ENST00000591849.5:c.152_153delinsTA	ENSP00000465347.1:p.Asp51Val
ENST00000618469.2:c.5453_5454delinsTA	ENSP00000478114.2:p.Asp1818Val
ENST00000634433.2:c.5330_5331delinsTA	ENSP00000489431.2:p.Asp1777Val
ENST00000644379.1:c.1840_1841delinsTA
ENST00000644379.2:c.5519_5520delinsTA	ENSP00000496570.2:p.Asp1840Val
ENST00000644555.2:c.2003_2004delinsTA	ENSP00000494614.2:p.Asp668Val
ENST00000652672.2:c.5312_5313delinsTA	ENSP00000498906.2:p.Asp1771Val
ENST00000700081.1:n.1336_1337delinsTA
ENST00000700082.1:n.817_818delinsTA