Canonical Allele Identifier: CA2695226102

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047664dup , CM000679.2:g.43047664dup	GRCh38
NC_000017.10:g.41199681dup , CM000679.1:g.41199681dup	GRCh37
NC_000017.9:g.38453207dup	NCBI36
NG_005905.2:g.170320dup , LRG_292:g.170320dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5443dup	ENSP00000417241.2:p.Thr1815AsnfsTer14
ENST00000470026.6:c.5446dup	ENSP00000419274.2:p.Thr1816AsnfsTer14
ENST00000473961.6:c.5320dup	ENSP00000420201.2:p.Thr1774AsnfsTer14
ENST00000476777.6:c.5440dup	ENSP00000417554.2:p.Thr1814AsnfsTer14
ENST00000477152.6:c.5368dup	ENSP00000419988.2:p.Thr1790AsnfsTer14
ENST00000478531.6:c.2134dup	ENSP00000420412.2:p.Thr712AsnfsTer14
ENST00000489037.2:c.5368dup	ENSP00000420781.2:p.Thr1790AsnfsTer14
ENST00000493919.6:c.1996dup	ENSP00000418819.2:p.Thr666AsnfsTer14
ENST00000494123.6:c.5446dup	ENSP00000419103.2:p.Thr1816AsnfsTer14
ENST00000497488.2:c.4558dup	ENSP00000418986.2:p.Thr1520AsnfsTer14
ENST00000618469.2:c.5446dup	ENSP00000478114.2:p.Thr1816AsnfsTer14
ENST00000634433.2:c.5323dup	ENSP00000489431.2:p.Thr1775AsnfsTer14
ENST00000644379.2:c.5512dup	ENSP00000496570.2:p.Thr1838AsnfsTer14
ENST00000644555.2:c.1996dup	ENSP00000494614.2:p.Thr666AsnfsTer14
ENST00000652672.2:c.5305dup	ENSP00000498906.2:p.Thr1769AsnfsTer14
ENST00000484087.6:c.2008dup	ENSP00000419481.2:p.Thr670AsnfsTer14
ENST00000700081.1:n.1329dup
ENST00000700082.1:n.810dup
ENST00000357654.9:c.5446dup MANE Select	ENSP00000350283.3:p.Thr1816AsnfsTer14
ENST00000471181.7:c.5509dup	ENSP00000418960.2:p.Thr1837AsnfsTer14
ENST00000644379.1:c.1833dup
ENST00000352993.7:c.2020dup	ENSP00000312236.5:p.Thr674AsnfsTer14
ENST00000357654.7:c.5446dup	ENSP00000350283.3:p.Thr1816AsnfsTer14
ENST00000461221.5:c.*5229dup	ENSP00000418548.1:n.*5229dup
ENST00000468300.5:c.2060dup	ENSP00000417148.1:p.Asp687GlufsTer19
ENST00000471181.6:c.5509dup	ENSP00000418960.2:p.Thr1837AsnfsTer14
ENST00000491747.6:c.2134dup	ENSP00000420705.2:p.Thr712AsnfsTer14
ENST00000493795.5:c.5305dup	ENSP00000418775.1:p.Thr1769AsnfsTer14
ENST00000586385.5:c.376dup	ENSP00000465818.1:p.Thr126AsnfsTer14
ENST00000591534.5:c.919dup	ENSP00000467329.1:p.Thr307AsnfsTer14
ENST00000591849.5:c.145dup	ENSP00000465347.1:p.Thr49AsnfsTer14
NM_007294.3:c.5446dup , LRG_292t1:c.5446dup	NP_009225.1:p.Thr1816AsnfsTer14
NM_007297.3:c.5305dup	NP_009228.2:p.Thr1769AsnfsTer14
NM_007298.3:c.2134dup	NP_009229.2:p.Thr712AsnfsTer14
NM_007299.3:c.2060dup	NP_009230.2:p.Asp687GlufsTer19
NM_007300.3:c.5509dup	NP_009231.2:p.Thr1837AsnfsTer14
NR_027676.1:n.5582dup
NM_007294.4:c.5446dup MANE Select	NP_009225.1:p.Thr1816AsnfsTer14
NM_007297.4:c.5305dup	NP_009228.2:p.Thr1769AsnfsTer14
NM_007299.4:c.2060dup	NP_009230.2:p.Asp687GlufsTer19
NM_007300.4:c.5509dup	NP_009231.2:p.Thr1837AsnfsTer14
NR_027676.2:n.5623dup