Canonical Allele Identifier: CA2260761030

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045706_43045707delinsAT , CM000679.2:g.43045706_43045707delinsAT	GRCh38
NC_000017.10:g.41197723_41197724delinsAT , CM000679.1:g.41197723_41197724delinsAT	GRCh37
NC_000017.9:g.38451249_38451250delinsAT	NCBI36
NG_005905.2:g.172277_172278delinsAT , LRG_292:g.172277_172278delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5560_5561delinsAT	ENSP00000417241.2:p.Ile1854=
ENST00000470026.6:c.5563_5564delinsAT	ENSP00000419274.2:p.Ile1855=
ENST00000473961.6:c.5437_5438delinsAT	ENSP00000420201.2:p.Ile1813=
ENST00000476777.6:c.5557_5558delinsAT	ENSP00000417554.2:p.Ile1853=
ENST00000477152.6:c.5485_5486delinsAT	ENSP00000419988.2:p.Ile1829=
ENST00000478531.6:c.2251_2252delinsAT	ENSP00000420412.2:p.Ile751=
ENST00000489037.2:c.5485_5486delinsAT	ENSP00000420781.2:p.Ile1829=
ENST00000493919.6:c.2113_2114delinsAT	ENSP00000418819.2:p.Ile705=
ENST00000494123.6:c.5563_5564delinsAT	ENSP00000419103.2:p.Ile1855=
ENST00000497488.2:c.4675_4676delinsAT	ENSP00000418986.2:p.Ile1559=
ENST00000618469.2:c.5563_5564delinsAT	ENSP00000478114.2:p.Ile1855=
ENST00000634433.2:c.5440_5441delinsAT	ENSP00000489431.2:p.Ile1814=
ENST00000644379.2:c.5629_5630delinsAT	ENSP00000496570.2:p.Ile1877=
ENST00000644555.2:c.2113_2114delinsAT	ENSP00000494614.2:p.Ile705=
ENST00000652672.2:c.5422_5423delinsAT	ENSP00000498906.2:p.Ile1808=
ENST00000484087.6:c.2125_2126delinsAT	ENSP00000419481.2:p.Ile709=
ENST00000700081.1:n.1446_1447delinsAT
ENST00000700082.1:n.927_928delinsAT
ENST00000357654.9:c.5563_5564delinsAT MANE Select	ENSP00000350283.3:p.Ile1855=
ENST00000471181.7:c.5626_5627delinsAT	ENSP00000418960.2:p.Ile1876=
ENST00000644379.1:c.1950_1951delinsAT
ENST00000352993.7:c.2137_2138delinsAT	ENSP00000312236.5:p.Ile713=
ENST00000357654.7:c.5563_5564delinsAT	ENSP00000350283.3:p.Ile1855=
ENST00000461221.5:c.*5346_*5347delinsAT	ENSP00000418548.1:n.*5346_*5347delinsAT
ENST00000468300.5:c.*77_*78delinsAT	ENSP00000417148.1:n.*77_*78delinsAT
ENST00000471181.6:c.5626_5627delinsAT	ENSP00000418960.2:p.Ile1876=
ENST00000491747.6:c.2251_2252delinsAT	ENSP00000420705.2:p.Ile751=
ENST00000493795.5:c.5422_5423delinsAT	ENSP00000418775.1:p.Ile1808=
ENST00000586385.5:c.493_494delinsAT	ENSP00000465818.1:p.Ile165=
ENST00000591534.5:c.1036_1037delinsAT	ENSP00000467329.1:p.Ile346=
ENST00000591849.5:c.262_263delinsAT	ENSP00000465347.1:p.Ile88=
NM_007294.3:c.5563_5564delinsAT , LRG_292t1:c.5563_5564delinsAT	NP_009225.1:p.Ile1855=
NM_007297.3:c.5422_5423delinsAT	NP_009228.2:p.Ile1808=
NM_007298.3:c.2251_2252delinsAT	NP_009229.2:p.Ile751=
NM_007299.3:c.*77_*78delinsAT	NP_009230.2:n.*77_*78delinsAT
NM_007300.3:c.5626_5627delinsAT	NP_009231.2:p.Ile1876=
NR_027676.1:n.5699_5700delinsAT
NM_007294.4:c.5563_5564delinsAT MANE Select	NP_009225.1:p.Ile1855=
NM_007297.4:c.5422_5423delinsAT	NP_009228.2:p.Ile1808=
NM_007299.4:c.*77_*78delinsAT	NP_009230.2:n.*77_*78delinsAT
NM_007300.4:c.5626_5627delinsAT	NP_009231.2:p.Ile1876=
NR_027676.2:n.5740_5741delinsAT