Canonical Allele Identifier: CA2638036268

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43045707-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045708_43045709insCC , CM000679.2:g.43045708_43045709insCC	GRCh38
NC_000017.10:g.41197725_41197726insCC , CM000679.1:g.41197725_41197726insCC	GRCh37
NC_000017.9:g.38451251_38451252insCC	NCBI36
NG_005905.2:g.172276_172277insGG , LRG_292:g.172276_172277insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5559_5560insGG	ENSP00000417241.2:p.Ile1854GlyfsTer?
ENST00000470026.6:c.5562_5563insGG	ENSP00000419274.2:p.Ile1855GlyfsTer?
ENST00000473961.6:c.5436_5437insGG	ENSP00000420201.2:p.Ile1813GlyfsTer?
ENST00000476777.6:c.5556_5557insGG	ENSP00000417554.2:p.Ile1853GlyfsTer?
ENST00000477152.6:c.5484_5485insGG	ENSP00000419988.2:p.Ile1829GlyfsTer?
ENST00000478531.6:c.2250_2251insGG	ENSP00000420412.2:p.Ile751GlyfsTer?
ENST00000489037.2:c.5484_5485insGG	ENSP00000420781.2:p.Ile1829GlyfsTer?
ENST00000493919.6:c.2112_2113insGG	ENSP00000418819.2:p.Ile705GlyfsTer?
ENST00000494123.6:c.5562_5563insGG	ENSP00000419103.2:p.Ile1855GlyfsTer?
ENST00000497488.2:c.4674_4675insGG	ENSP00000418986.2:p.Ile1559GlyfsTer?
ENST00000618469.2:c.5562_5563insGG	ENSP00000478114.2:p.Ile1855GlyfsTer?
ENST00000634433.2:c.5439_5440insGG	ENSP00000489431.2:p.Ile1814GlyfsTer?
ENST00000644379.2:c.5628_5629insGG	ENSP00000496570.2:p.Ile1877GlyfsTer?
ENST00000644555.2:c.2112_2113insGG	ENSP00000494614.2:p.Ile705GlyfsTer?
ENST00000652672.2:c.5421_5422insGG	ENSP00000498906.2:p.Ile1808GlyfsTer?
ENST00000484087.6:c.2124_2125insGG	ENSP00000419481.2:p.Ile709GlyfsTer?
ENST00000700081.1:n.1445_1446insGG
ENST00000700082.1:n.926_927insGG
ENST00000357654.9:c.5562_5563insGG MANE Select	ENSP00000350283.3:p.Ile1855GlyfsTer?
ENST00000471181.7:c.5625_5626insGG	ENSP00000418960.2:p.Ile1876GlyfsTer?
ENST00000644379.1:c.1949_1950insGG
ENST00000352993.7:c.2136_2137insGG	ENSP00000312236.5:p.Ile713GlyfsTer?
ENST00000357654.7:c.5562_5563insGG	ENSP00000350283.3:p.Ile1855GlyfsTer?
ENST00000461221.5:c.*5345_*5346insGG	ENSP00000418548.1:n.*5345_*5346insGG
ENST00000468300.5:c.*76_*77insGG	ENSP00000417148.1:n.*76_*77insGG
ENST00000471181.6:c.5625_5626insGG	ENSP00000418960.2:p.Ile1876GlyfsTer?
ENST00000491747.6:c.2250_2251insGG	ENSP00000420705.2:p.Ile751GlyfsTer?
ENST00000493795.5:c.5421_5422insGG	ENSP00000418775.1:p.Ile1808GlyfsTer?
ENST00000586385.5:c.492_493insGG	ENSP00000465818.1:p.Ile165GlyfsTer?
ENST00000591534.5:c.1035_1036insGG	ENSP00000467329.1:p.Ile346GlyfsTer?
ENST00000591849.5:c.261_262insGG	ENSP00000465347.1:p.Ile88GlyfsTer?
NM_007294.3:c.5562_5563insGG , LRG_292t1:c.5562_5563insGG	NP_009225.1:p.Ile1855GlyfsTer?
NM_007297.3:c.5421_5422insGG	NP_009228.2:p.Ile1808GlyfsTer?
NM_007298.3:c.2250_2251insGG	NP_009229.2:p.Ile751GlyfsTer?
NM_007299.3:c.*76_*77insGG	NP_009230.2:n.*76_*77insGG
NM_007300.3:c.5625_5626insGG	NP_009231.2:p.Ile1876GlyfsTer?
NR_027676.1:n.5698_5699insGG
NM_007294.4:c.5562_5563insGG MANE Select	NP_009225.1:p.Ile1855GlyfsTer?
NM_007297.4:c.5421_5422insGG	NP_009228.2:p.Ile1808GlyfsTer?
NM_007299.4:c.*76_*77insGG	NP_009230.2:n.*76_*77insGG
NM_007300.4:c.5625_5626insGG	NP_009231.2:p.Ile1876GlyfsTer?
NR_027676.2:n.5739_5740insGG