Canonical Allele Identifier: CA2638060697

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43049174-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049175del , CM000679.2:g.43049175del	GRCh38
NC_000017.10:g.41201192del , CM000679.1:g.41201192del	GRCh37
NC_000017.9:g.38454718del	NCBI36
NG_005905.2:g.168809del , LRG_292:g.168809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5349del	ENSP00000417241.2:p.Gln1784SerfsTer8
ENST00000470026.6:c.5352del	ENSP00000419274.2:p.Gln1785SerfsTer8
ENST00000473961.6:c.5226del	ENSP00000420201.2:p.Gln1743SerfsTer8
ENST00000476777.6:c.5346del	ENSP00000417554.2:p.Gln1783SerfsTer8
ENST00000477152.6:c.5274del	ENSP00000419988.2:p.Gln1759SerfsTer8
ENST00000478531.6:c.2040del	ENSP00000420412.2:p.Gln681SerfsTer8
ENST00000489037.2:c.5274del	ENSP00000420781.2:p.Gln1759SerfsTer8
ENST00000493919.6:c.1902del	ENSP00000418819.2:p.Gln635SerfsTer8
ENST00000494123.6:c.5352del	ENSP00000419103.2:p.Gln1785SerfsTer8
ENST00000497488.2:c.4464del	ENSP00000418986.2:p.Gln1489SerfsTer8
ENST00000618469.2:c.5352del	ENSP00000478114.2:p.Gln1785SerfsTer8
ENST00000634433.2:c.5229del	ENSP00000489431.2:p.Gln1744SerfsTer8
ENST00000644379.2:c.5418del	ENSP00000496570.2:p.Gln1807SerfsTer8
ENST00000644555.2:c.1902del	ENSP00000494614.2:p.Gln635SerfsTer8
ENST00000652672.2:c.5211del	ENSP00000498906.2:p.Gln1738SerfsTer8
ENST00000484087.6:c.1914del	ENSP00000419481.2:p.Gln639SerfsTer8
ENST00000700081.1:n.1235del
ENST00000357654.9:c.5352del MANE Select	ENSP00000350283.3:p.Gln1785SerfsTer8
ENST00000471181.7:c.5415del	ENSP00000418960.2:p.Gln1806SerfsTer8
ENST00000644379.1:c.1739del
ENST00000352993.7:c.1926del	ENSP00000312236.5:p.Gln643SerfsTer8
ENST00000357654.7:c.5352del	ENSP00000350283.3:p.Gln1785SerfsTer8
ENST00000461221.5:c.*5135del	ENSP00000418548.1:n.*5135del
ENST00000468300.5:c.2021-1472del	ENSP00000417148.1:n.2021-1472del
ENST00000471181.6:c.5415del	ENSP00000418960.2:p.Gln1806SerfsTer8
ENST00000491747.6:c.2040del	ENSP00000420705.2:p.Gln681SerfsTer8
ENST00000493795.5:c.5211del	ENSP00000418775.1:p.Gln1738SerfsTer8
ENST00000586385.5:c.282del	ENSP00000465818.1:p.Gln95SerfsTer8
ENST00000591534.5:c.825del	ENSP00000467329.1:p.Gln276SerfsTer8
ENST00000591849.5:c.51del	ENSP00000465347.1:p.Gln18SerfsTer8
NM_007294.3:c.5352del , LRG_292t1:c.5352del	NP_009225.1:p.Gln1785SerfsTer8
NM_007297.3:c.5211del	NP_009228.2:p.Gln1738SerfsTer8
NM_007298.3:c.2040del	NP_009229.2:p.Gln681SerfsTer8
NM_007299.3:c.2021-1472del	NP_009230.2:n.2021-1472del
NM_007300.3:c.5415del	NP_009231.2:p.Gln1806SerfsTer8
NR_027676.1:n.5488del
NM_007294.4:c.5352del MANE Select	NP_009225.1:p.Gln1785SerfsTer8
NM_007297.4:c.5211del	NP_009228.2:p.Gln1738SerfsTer8
NM_007299.4:c.2021-1472del	NP_009230.2:n.2021-1472del
NM_007300.4:c.5415del	NP_009231.2:p.Gln1806SerfsTer8
NR_027676.2:n.5529del