Canonical Allele Identifier: CA1139665551

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 993167
• ClinVar RCV Id: RCV001284401
• dbSNP Id: rs2051071982

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049121_43049194del , CM000679.2:g.43049121_43049194del	GRCh38
NC_000017.10:g.41201138_41201211del , CM000679.1:g.41201138_41201211del	GRCh37
NC_000017.9:g.38454664_38454737del	NCBI36
NG_005905.2:g.168790_168863del , LRG_292:g.168790_168863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5330_5403del	ENSP00000417241.2:p.Asp1777GlyfsTer27
ENST00000470026.6:c.5333_5406del	ENSP00000419274.2:p.Asp1778GlyfsTer27
ENST00000473961.6:c.5207_5280del	ENSP00000420201.2:p.Asp1736GlyfsTer27
ENST00000476777.6:c.5327_5400del	ENSP00000417554.2:p.Asp1776GlyfsTer27
ENST00000477152.6:c.5255_5328del	ENSP00000419988.2:p.Asp1752GlyfsTer27
ENST00000478531.6:c.2021_2094del	ENSP00000420412.2:p.Asp674GlyfsTer27
ENST00000489037.2:c.5255_5328del	ENSP00000420781.2:p.Asp1752GlyfsTer27
ENST00000493919.6:c.1883_1956del	ENSP00000418819.2:p.Asp628GlyfsTer27
ENST00000494123.6:c.5333_5406del	ENSP00000419103.2:p.Asp1778GlyfsTer27
ENST00000497488.2:c.4445_4518del	ENSP00000418986.2:p.Asp1482GlyfsTer27
ENST00000618469.2:c.5333_5406del	ENSP00000478114.2:p.Asp1778GlyfsTer27
ENST00000634433.2:c.5210_5283del	ENSP00000489431.2:p.Asp1737GlyfsTer27
ENST00000644379.2:c.5399_5472del	ENSP00000496570.2:p.Asp1800GlyfsTer27
ENST00000644555.2:c.1883_1956del	ENSP00000494614.2:p.Asp628GlyfsTer27
ENST00000652672.2:c.5192_5265del	ENSP00000498906.2:p.Asp1731GlyfsTer27
ENST00000484087.6:c.1895_1968del	ENSP00000419481.2:p.Asp632GlyfsTer27
ENST00000700081.1:n.1216_1289del
ENST00000357654.9:c.5333_5406del MANE Select	ENSP00000350283.3:p.Asp1778GlyfsTer27
ENST00000471181.7:c.5396_5469del	ENSP00000418960.2:p.Asp1799GlyfsTer27
ENST00000644379.1:c.1720_1793del
ENST00000352993.7:c.1907_1980del	ENSP00000312236.5:p.Asp636GlyfsTer27
ENST00000357654.7:c.5333_5406del	ENSP00000350283.3:p.Asp1778GlyfsTer27
ENST00000461221.5:c.*5116_*5189del	ENSP00000418548.1:n.*5116_*5189del
ENST00000468300.5:c.2021-1491_2021-1418del	ENSP00000417148.1:n.2021-1491_2021-1418de...
ENST00000471181.6:c.5396_5469del	ENSP00000418960.2:p.Asp1799GlyfsTer27
ENST00000491747.6:c.2021_2094del	ENSP00000420705.2:p.Asp674GlyfsTer27
ENST00000493795.5:c.5192_5265del	ENSP00000418775.1:p.Asp1731GlyfsTer27
ENST00000586385.5:c.263_336del	ENSP00000465818.1:p.Asp88GlyfsTer27
ENST00000591534.5:c.806_879del	ENSP00000467329.1:p.Asp269GlyfsTer27
ENST00000591849.5:c.32_105del	ENSP00000465347.1:p.Tyr11TrpfsTer27
NM_007294.3:c.5333_5406del , LRG_292t1:c.5333_5406del	NP_009225.1:p.Asp1778GlyfsTer27
NM_007297.3:c.5192_5265del	NP_009228.2:p.Asp1731GlyfsTer27
NM_007298.3:c.2021_2094del	NP_009229.2:p.Asp674GlyfsTer27
NM_007299.3:c.2021-1491_2021-1418del	NP_009230.2:n.2021-1491_2021-1418del
NM_007300.3:c.5396_5469del	NP_009231.2:p.Asp1799GlyfsTer27
NR_027676.1:n.5469_5542del
NM_007294.4:c.5333_5406del MANE Select	NP_009225.1:p.Asp1778GlyfsTer27
NM_007297.4:c.5192_5265del	NP_009228.2:p.Asp1731GlyfsTer27
NM_007299.4:c.2021-1491_2021-1418del	NP_009230.2:n.2021-1491_2021-1418del
NM_007300.4:c.5396_5469del	NP_009231.2:p.Asp1799GlyfsTer27
NR_027676.2:n.5510_5583del