Canonical Allele Identifier: CA2260761982

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047655_43047656delinsTG , CM000679.2:g.43047655_43047656delinsTG	GRCh38
NC_000017.10:g.41199672_41199673delinsTG , CM000679.1:g.41199672_41199673delinsTG	GRCh37
NC_000017.9:g.38453198_38453199delinsTG	NCBI36
NG_005905.2:g.170328_170329delinsCA , LRG_292:g.170328_170329delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5451_5452delinsCA	ENSP00000417241.2:p.Asp1817=
ENST00000470026.6:c.5454_5455delinsCA	ENSP00000419274.2:p.Asp1818=
ENST00000473961.6:c.5328_5329delinsCA	ENSP00000420201.2:p.Asp1776=
ENST00000476777.6:c.5448_5449delinsCA	ENSP00000417554.2:p.Asp1816=
ENST00000477152.6:c.5376_5377delinsCA	ENSP00000419988.2:p.Asp1792=
ENST00000478531.6:c.2142_2143delinsCA	ENSP00000420412.2:p.Asp714=
ENST00000489037.2:c.5376_5377delinsCA	ENSP00000420781.2:p.Asp1792=
ENST00000493919.6:c.2004_2005delinsCA	ENSP00000418819.2:p.Asp668=
ENST00000494123.6:c.5454_5455delinsCA	ENSP00000419103.2:p.Asp1818=
ENST00000497488.2:c.4566_4567delinsCA	ENSP00000418986.2:p.Asp1522=
ENST00000618469.2:c.5454_5455delinsCA	ENSP00000478114.2:p.Asp1818=
ENST00000634433.2:c.5331_5332delinsCA	ENSP00000489431.2:p.Asp1777=
ENST00000644379.2:c.5520_5521delinsCA	ENSP00000496570.2:p.Asp1840=
ENST00000644555.2:c.2004_2005delinsCA	ENSP00000494614.2:p.Asp668=
ENST00000652672.2:c.5313_5314delinsCA	ENSP00000498906.2:p.Asp1771=
ENST00000484087.6:c.2016_2017delinsCA	ENSP00000419481.2:p.Asp672=
ENST00000700081.1:n.1337_1338delinsCA
ENST00000700082.1:n.818_819delinsCA
ENST00000357654.9:c.5454_5455delinsCA MANE Select	ENSP00000350283.3:p.Asp1818=
ENST00000471181.7:c.5517_5518delinsCA	ENSP00000418960.2:p.Asp1839=
ENST00000644379.1:c.1841_1842delinsCA
ENST00000352993.7:c.2028_2029delinsCA	ENSP00000312236.5:p.Asp676=
ENST00000357654.7:c.5454_5455delinsCA	ENSP00000350283.3:p.Asp1818=
ENST00000461221.5:c.*5237_*5238delinsCA	ENSP00000418548.1:n.*5237_*5238delinsCA
ENST00000468300.5:c.2068_2069delinsCA	ENSP00000417148.1:p.Gln690=
ENST00000471181.6:c.5517_5518delinsCA	ENSP00000418960.2:p.Asp1839=
ENST00000491747.6:c.2142_2143delinsCA	ENSP00000420705.2:p.Asp714=
ENST00000493795.5:c.5313_5314delinsCA	ENSP00000418775.1:p.Asp1771=
ENST00000586385.5:c.384_385delinsCA	ENSP00000465818.1:p.Asp128=
ENST00000591534.5:c.927_928delinsCA	ENSP00000467329.1:p.Asp309=
ENST00000591849.5:c.153_154delinsCA	ENSP00000465347.1:p.Asp51=
NM_007294.3:c.5454_5455delinsCA , LRG_292t1:c.5454_5455delinsCA	NP_009225.1:p.Asp1818=
NM_007297.3:c.5313_5314delinsCA	NP_009228.2:p.Asp1771=
NM_007298.3:c.2142_2143delinsCA	NP_009229.2:p.Asp714=
NM_007299.3:c.2068_2069delinsCA	NP_009230.2:p.Gln690=
NM_007300.3:c.5517_5518delinsCA	NP_009231.2:p.Asp1839=
NR_027676.1:n.5590_5591delinsCA
NM_007294.4:c.5454_5455delinsCA MANE Select	NP_009225.1:p.Asp1818=
NM_007297.4:c.5313_5314delinsCA	NP_009228.2:p.Asp1771=
NM_007299.4:c.2068_2069delinsCA	NP_009230.2:p.Gln690=
NM_007300.4:c.5517_5518delinsCA	NP_009231.2:p.Asp1839=
NR_027676.2:n.5631_5632delinsCA