Canonical Allele Identifier: CA915950023

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825830
• ClinVar RCV Id: RCV001024278 ; RCV001241613
• dbSNP Id: rs483353103

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045707delinsGGATCC , CM000679.2:g.43045707delinsGGATCC	GRCh38
NC_000017.10:g.41197724delinsGGATCC , CM000679.1:g.41197724delinsGGATCC	GRCh37
NC_000017.9:g.38451250delinsGGATCC	NCBI36
NG_005905.2:g.172277delinsGGATCC , LRG_292:g.172277delinsGGATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5560delinsGGATCC	ENSP00000417241.2:p.Ile1854GlyfsTer?
ENST00000470026.6:c.5563delinsGGATCC	ENSP00000419274.2:p.Ile1855GlyfsTer?
ENST00000473961.6:c.5437delinsGGATCC	ENSP00000420201.2:p.Ile1813GlyfsTer?
ENST00000476777.6:c.5557delinsGGATCC	ENSP00000417554.2:p.Ile1853GlyfsTer?
ENST00000477152.6:c.5485delinsGGATCC	ENSP00000419988.2:p.Ile1829GlyfsTer?
ENST00000478531.6:c.2251delinsGGATCC	ENSP00000420412.2:p.Ile751GlyfsTer?
ENST00000489037.2:c.5485delinsGGATCC	ENSP00000420781.2:p.Ile1829GlyfsTer?
ENST00000493919.6:c.2113delinsGGATCC	ENSP00000418819.2:p.Ile705GlyfsTer?
ENST00000494123.6:c.5563delinsGGATCC	ENSP00000419103.2:p.Ile1855GlyfsTer?
ENST00000497488.2:c.4675delinsGGATCC	ENSP00000418986.2:p.Ile1559GlyfsTer?
ENST00000618469.2:c.5563delinsGGATCC	ENSP00000478114.2:p.Ile1855GlyfsTer?
ENST00000634433.2:c.5440delinsGGATCC	ENSP00000489431.2:p.Ile1814GlyfsTer?
ENST00000644379.2:c.5629delinsGGATCC	ENSP00000496570.2:p.Ile1877GlyfsTer?
ENST00000644555.2:c.2113delinsGGATCC	ENSP00000494614.2:p.Ile705GlyfsTer?
ENST00000652672.2:c.5422delinsGGATCC	ENSP00000498906.2:p.Ile1808GlyfsTer?
ENST00000484087.6:c.2125delinsGGATCC	ENSP00000419481.2:p.Ile709GlyfsTer?
ENST00000700081.1:n.1446delinsGGATCC
ENST00000700082.1:n.927delinsGGATCC
ENST00000357654.9:c.5563delinsGGATCC MANE Select	ENSP00000350283.3:p.Ile1855GlyfsTer?
ENST00000471181.7:c.5626delinsGGATCC	ENSP00000418960.2:p.Ile1876GlyfsTer?
ENST00000644379.1:c.1950delinsGGATCC
ENST00000352993.7:c.2137delinsGGATCC	ENSP00000312236.5:p.Ile713GlyfsTer?
ENST00000357654.7:c.5563delinsGGATCC	ENSP00000350283.3:p.Ile1855GlyfsTer?
ENST00000461221.5:c.*5346delinsGGATCC	ENSP00000418548.1:n.*5346delinsGGATCC
ENST00000468300.5:c.*77delinsGGATCC	ENSP00000417148.1:n.*77delinsGGATCC
ENST00000471181.6:c.5626delinsGGATCC	ENSP00000418960.2:p.Ile1876GlyfsTer?
ENST00000491747.6:c.2251delinsGGATCC	ENSP00000420705.2:p.Ile751GlyfsTer?
ENST00000493795.5:c.5422delinsGGATCC	ENSP00000418775.1:p.Ile1808GlyfsTer?
ENST00000586385.5:c.493delinsGGATCC	ENSP00000465818.1:p.Ile165GlyfsTer?
ENST00000591534.5:c.1036delinsGGATCC	ENSP00000467329.1:p.Ile346GlyfsTer?
ENST00000591849.5:c.262delinsGGATCC	ENSP00000465347.1:p.Ile88GlyfsTer?
NM_007294.3:c.5563delinsGGATCC , LRG_292t1:c.5563delinsGGATCC	NP_009225.1:p.Ile1855GlyfsTer?
NM_007297.3:c.5422delinsGGATCC	NP_009228.2:p.Ile1808GlyfsTer?
NM_007298.3:c.2251delinsGGATCC	NP_009229.2:p.Ile751GlyfsTer?
NM_007299.3:c.*77delinsGGATCC	NP_009230.2:n.*77delinsGGATCC
NM_007300.3:c.5626delinsGGATCC	NP_009231.2:p.Ile1876GlyfsTer?
NR_027676.1:n.5699delinsGGATCC
NM_007294.4:c.5563delinsGGATCC MANE Select	NP_009225.1:p.Ile1855GlyfsTer?
NM_007297.4:c.5422delinsGGATCC	NP_009228.2:p.Ile1808GlyfsTer?
NM_007299.4:c.*77delinsGGATCC	NP_009230.2:n.*77delinsGGATCC
NM_007300.4:c.5626delinsGGATCC	NP_009231.2:p.Ile1876GlyfsTer?
NR_027676.2:n.5740delinsGGATCC