Canonical Allele Identifier: CA2260761032

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045707_43045708delinsTC , CM000679.2:g.43045707_43045708delinsTC	GRCh38
NC_000017.10:g.41197724_41197725delinsTC , CM000679.1:g.41197724_41197725delinsTC	GRCh37
NC_000017.9:g.38451250_38451251delinsTC	NCBI36
NG_005905.2:g.172276_172277delinsGA , LRG_292:g.172276_172277delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5559_5560delinsGA	ENSP00000417241.2:p.Leu1853=
ENST00000470026.6:c.5562_5563delinsGA	ENSP00000419274.2:p.Leu1854=
ENST00000473961.6:c.5436_5437delinsGA	ENSP00000420201.2:p.Leu1812=
ENST00000476777.6:c.5556_5557delinsGA	ENSP00000417554.2:p.Leu1852=
ENST00000477152.6:c.5484_5485delinsGA	ENSP00000419988.2:p.Leu1828=
ENST00000478531.6:c.2250_2251delinsGA	ENSP00000420412.2:p.Leu750=
ENST00000489037.2:c.5484_5485delinsGA	ENSP00000420781.2:p.Leu1828=
ENST00000493919.6:c.2112_2113delinsGA	ENSP00000418819.2:p.Leu704=
ENST00000494123.6:c.5562_5563delinsGA	ENSP00000419103.2:p.Leu1854=
ENST00000497488.2:c.4674_4675delinsGA	ENSP00000418986.2:p.Leu1558=
ENST00000618469.2:c.5562_5563delinsGA	ENSP00000478114.2:p.Leu1854=
ENST00000634433.2:c.5439_5440delinsGA	ENSP00000489431.2:p.Leu1813=
ENST00000644379.2:c.5628_5629delinsGA	ENSP00000496570.2:p.Leu1876=
ENST00000644555.2:c.2112_2113delinsGA	ENSP00000494614.2:p.Leu704=
ENST00000652672.2:c.5421_5422delinsGA	ENSP00000498906.2:p.Leu1807=
ENST00000484087.6:c.2124_2125delinsGA	ENSP00000419481.2:p.Leu708=
ENST00000700081.1:n.1445_1446delinsGA
ENST00000700082.1:n.926_927delinsGA
ENST00000357654.9:c.5562_5563delinsGA MANE Select	ENSP00000350283.3:p.Leu1854=
ENST00000471181.7:c.5625_5626delinsGA	ENSP00000418960.2:p.Leu1875=
ENST00000644379.1:c.1949_1950delinsGA
ENST00000352993.7:c.2136_2137delinsGA	ENSP00000312236.5:p.Leu712=
ENST00000357654.7:c.5562_5563delinsGA	ENSP00000350283.3:p.Leu1854=
ENST00000461221.5:c.*5345_*5346delinsGA	ENSP00000418548.1:n.*5345_*5346delinsGA
ENST00000468300.5:c.*76_*77delinsGA	ENSP00000417148.1:n.*76_*77delinsGA
ENST00000471181.6:c.5625_5626delinsGA	ENSP00000418960.2:p.Leu1875=
ENST00000491747.6:c.2250_2251delinsGA	ENSP00000420705.2:p.Leu750=
ENST00000493795.5:c.5421_5422delinsGA	ENSP00000418775.1:p.Leu1807=
ENST00000586385.5:c.492_493delinsGA	ENSP00000465818.1:p.Leu164=
ENST00000591534.5:c.1035_1036delinsGA	ENSP00000467329.1:p.Leu345=
ENST00000591849.5:c.261_262delinsGA	ENSP00000465347.1:p.Leu87=
NM_007294.3:c.5562_5563delinsGA , LRG_292t1:c.5562_5563delinsGA	NP_009225.1:p.Leu1854=
NM_007297.3:c.5421_5422delinsGA	NP_009228.2:p.Leu1807=
NM_007298.3:c.2250_2251delinsGA	NP_009229.2:p.Leu750=
NM_007299.3:c.*76_*77delinsGA	NP_009230.2:n.*76_*77delinsGA
NM_007300.3:c.5625_5626delinsGA	NP_009231.2:p.Leu1875=
NR_027676.1:n.5698_5699delinsGA
NM_007294.4:c.5562_5563delinsGA MANE Select	NP_009225.1:p.Leu1854=
NM_007297.4:c.5421_5422delinsGA	NP_009228.2:p.Leu1807=
NM_007299.4:c.*76_*77delinsGA	NP_009230.2:n.*76_*77delinsGA
NM_007300.4:c.5625_5626delinsGA	NP_009231.2:p.Leu1875=
NR_027676.2:n.5739_5740delinsGA