Canonical Allele Identifier: CA2260761066

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045730_43045736delinsCACTGGT , CM000679.2:g.43045730_43045736delinsCACTGGT	GRCh38
NC_000017.10:g.41197747_41197753delinsCACTGGT , CM000679.1:g.41197747_41197753delinsCACTGGT	GRCh37
NC_000017.9:g.38451273_38451279delinsCACTGGT	NCBI36
NG_005905.2:g.172248_172254delinsACCAGTG , LRG_292:g.172248_172254delinsACCAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5531_5537delinsACCAGTG	ENSP00000417241.2:p.Tyr1844=
ENST00000470026.6:c.5534_5540delinsACCAGTG	ENSP00000419274.2:p.Tyr1845=
ENST00000473961.6:c.5408_5414delinsACCAGTG	ENSP00000420201.2:p.Tyr1803=
ENST00000476777.6:c.5528_5534delinsACCAGTG	ENSP00000417554.2:p.Tyr1843=
ENST00000477152.6:c.5456_5462delinsACCAGTG	ENSP00000419988.2:p.Tyr1819=
ENST00000478531.6:c.2222_2228delinsACCAGTG	ENSP00000420412.2:p.Tyr741=
ENST00000489037.2:c.5456_5462delinsACCAGTG	ENSP00000420781.2:p.Tyr1819=
ENST00000493919.6:c.2084_2090delinsACCAGTG	ENSP00000418819.2:p.Tyr695=
ENST00000494123.6:c.5534_5540delinsACCAGTG	ENSP00000419103.2:p.Tyr1845=
ENST00000497488.2:c.4646_4652delinsACCAGTG	ENSP00000418986.2:p.Tyr1549=
ENST00000618469.2:c.5534_5540delinsACCAGTG	ENSP00000478114.2:p.Tyr1845=
ENST00000634433.2:c.5411_5417delinsACCAGTG	ENSP00000489431.2:p.Tyr1804=
ENST00000644379.2:c.5600_5606delinsACCAGTG	ENSP00000496570.2:p.Tyr1867=
ENST00000644555.2:c.2084_2090delinsACCAGTG	ENSP00000494614.2:p.Tyr695=
ENST00000652672.2:c.5393_5399delinsACCAGTG	ENSP00000498906.2:p.Tyr1798=
ENST00000484087.6:c.2096_2102delinsACCAGTG	ENSP00000419481.2:p.Tyr699=
ENST00000700081.1:n.1417_1423delinsACCAGTG
ENST00000700082.1:n.898_904delinsACCAGTG
ENST00000357654.9:c.5534_5540delinsACCAGTG MANE Select	ENSP00000350283.3:p.Tyr1845=
ENST00000471181.7:c.5597_5603delinsACCAGTG	ENSP00000418960.2:p.Tyr1866=
ENST00000644379.1:c.1921_1927delinsACCAGTG
ENST00000352993.7:c.2108_2114delinsACCAGTG	ENSP00000312236.5:p.Tyr703=
ENST00000357654.7:c.5534_5540delinsACCAGTG	ENSP00000350283.3:p.Tyr1845=
ENST00000461221.5:c.*5317_*5323delinsACCAGTG	ENSP00000418548.1:n.*5317_*5323delinsACCAGTG
ENST00000468300.5:c.*48_*54delinsACCAGTG	ENSP00000417148.1:n.*48_*54delinsACCAGTG
ENST00000471181.6:c.5597_5603delinsACCAGTG	ENSP00000418960.2:p.Tyr1866=
ENST00000491747.6:c.2222_2228delinsACCAGTG	ENSP00000420705.2:p.Tyr741=
ENST00000493795.5:c.5393_5399delinsACCAGTG	ENSP00000418775.1:p.Tyr1798=
ENST00000586385.5:c.464_470delinsACCAGTG	ENSP00000465818.1:p.Tyr155=
ENST00000591534.5:c.1007_1013delinsACCAGTG	ENSP00000467329.1:p.Tyr336=
ENST00000591849.5:c.233_239delinsACCAGTG	ENSP00000465347.1:p.Tyr78=
NM_007294.3:c.5534_5540delinsACCAGTG , LRG_292t1:c.5534_5540delinsACCAGTG	NP_009225.1:p.Tyr1845=
NM_007297.3:c.5393_5399delinsACCAGTG	NP_009228.2:p.Tyr1798=
NM_007298.3:c.2222_2228delinsACCAGTG	NP_009229.2:p.Tyr741=
NM_007299.3:c.*48_*54delinsACCAGTG	NP_009230.2:n.*48_*54delinsACCAGTG
NM_007300.3:c.5597_5603delinsACCAGTG	NP_009231.2:p.Tyr1866=
NR_027676.1:n.5670_5676delinsACCAGTG
NM_007294.4:c.5534_5540delinsACCAGTG MANE Select	NP_009225.1:p.Tyr1845=
NM_007297.4:c.5393_5399delinsACCAGTG	NP_009228.2:p.Tyr1798=
NM_007299.4:c.*48_*54delinsACCAGTG	NP_009230.2:n.*48_*54delinsACCAGTG
NM_007300.4:c.5597_5603delinsACCAGTG	NP_009231.2:p.Tyr1866=
NR_027676.2:n.5711_5717delinsACCAGTG