Canonical Allele Identifier: CA2260761027

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045705_43045706delinsTA , CM000679.2:g.43045705_43045706delinsTA	GRCh38
NC_000017.10:g.41197722_41197723delinsTA , CM000679.1:g.41197722_41197723delinsTA	GRCh37
NC_000017.9:g.38451248_38451249delinsTA	NCBI36
NG_005905.2:g.172278_172279delinsTA , LRG_292:g.172278_172279delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5561_5562delinsTA	ENSP00000417241.2:p.Ile1854=
ENST00000470026.6:c.5564_5565delinsTA	ENSP00000419274.2:p.Ile1855=
ENST00000473961.6:c.5438_5439delinsTA	ENSP00000420201.2:p.Ile1813=
ENST00000476777.6:c.5558_5559delinsTA	ENSP00000417554.2:p.Ile1853=
ENST00000477152.6:c.5486_5487delinsTA	ENSP00000419988.2:p.Ile1829=
ENST00000478531.6:c.2252_2253delinsTA	ENSP00000420412.2:p.Ile751=
ENST00000489037.2:c.5486_5487delinsTA	ENSP00000420781.2:p.Ile1829=
ENST00000493919.6:c.2114_2115delinsTA	ENSP00000418819.2:p.Ile705=
ENST00000494123.6:c.5564_5565delinsTA	ENSP00000419103.2:p.Ile1855=
ENST00000497488.2:c.4676_4677delinsTA	ENSP00000418986.2:p.Ile1559=
ENST00000618469.2:c.5564_5565delinsTA	ENSP00000478114.2:p.Ile1855=
ENST00000634433.2:c.5441_5442delinsTA	ENSP00000489431.2:p.Ile1814=
ENST00000644379.2:c.5630_5631delinsTA	ENSP00000496570.2:p.Ile1877=
ENST00000644555.2:c.2114_2115delinsTA	ENSP00000494614.2:p.Ile705=
ENST00000652672.2:c.5423_5424delinsTA	ENSP00000498906.2:p.Ile1808=
ENST00000484087.6:c.2126_2127delinsTA	ENSP00000419481.2:p.Ile709=
ENST00000700081.1:n.1447_1448delinsTA
ENST00000700082.1:n.928_929delinsTA
ENST00000357654.9:c.5564_5565delinsTA MANE Select	ENSP00000350283.3:p.Ile1855=
ENST00000471181.7:c.5627_5628delinsTA	ENSP00000418960.2:p.Ile1876=
ENST00000644379.1:c.1951_1952delinsTA
ENST00000352993.7:c.2138_2139delinsTA	ENSP00000312236.5:p.Ile713=
ENST00000357654.7:c.5564_5565delinsTA	ENSP00000350283.3:p.Ile1855=
ENST00000461221.5:c.*5347_*5348delinsTA	ENSP00000418548.1:n.*5347_*5348delinsTA
ENST00000468300.5:c.*78_*79delinsTA	ENSP00000417148.1:n.*78_*79delinsTA
ENST00000471181.6:c.5627_5628delinsTA	ENSP00000418960.2:p.Ile1876=
ENST00000491747.6:c.2252_2253delinsTA	ENSP00000420705.2:p.Ile751=
ENST00000493795.5:c.5423_5424delinsTA	ENSP00000418775.1:p.Ile1808=
ENST00000586385.5:c.494_495delinsTA	ENSP00000465818.1:p.Ile165=
ENST00000591534.5:c.1037_1038delinsTA	ENSP00000467329.1:p.Ile346=
ENST00000591849.5:c.263_264delinsTA	ENSP00000465347.1:p.Ile88=
NM_007294.3:c.5564_5565delinsTA , LRG_292t1:c.5564_5565delinsTA	NP_009225.1:p.Ile1855=
NM_007297.3:c.5423_5424delinsTA	NP_009228.2:p.Ile1808=
NM_007298.3:c.2252_2253delinsTA	NP_009229.2:p.Ile751=
NM_007299.3:c.*78_*79delinsTA	NP_009230.2:n.*78_*79delinsTA
NM_007300.3:c.5627_5628delinsTA	NP_009231.2:p.Ile1876=
NR_027676.1:n.5700_5701delinsTA
NM_007294.4:c.5564_5565delinsTA MANE Select	NP_009225.1:p.Ile1855=
NM_007297.4:c.5423_5424delinsTA	NP_009228.2:p.Ile1808=
NM_007299.4:c.*78_*79delinsTA	NP_009230.2:n.*78_*79delinsTA
NM_007300.4:c.5627_5628delinsTA	NP_009231.2:p.Ile1876=
NR_027676.2:n.5741_5742delinsTA