Canonical Allele Identifier: CA2260782431

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091926_43091927delinsTA , CM000679.2:g.43091926_43091927delinsTA	GRCh38
NC_000017.10:g.41243943_41243944delinsTA , CM000679.1:g.41243943_41243944delinsTA	GRCh37
NC_000017.9:g.38497469_38497470delinsTA	NCBI36
NG_005905.2:g.126057_126058delinsTA , LRG_292:g.126057_126058delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3668_3669delinsTA
ENST00000461574.2:c.3604_3605delinsTA	ENSP00000417241.2:p.Tyr1202=
ENST00000470026.6:c.3604_3605delinsTA	ENSP00000419274.2:p.Tyr1202=
ENST00000473961.6:c.3478_3479delinsTA	ENSP00000420201.2:p.Tyr1160=
ENST00000476777.6:c.3601_3602delinsTA	ENSP00000417554.2:p.Tyr1201=
ENST00000477152.6:c.3526_3527delinsTA	ENSP00000419988.2:p.Tyr1176=
ENST00000478531.6:c.785-895_785-894delinsTA	ENSP00000420412.2:n.785-895_785-894delinsTA
ENST00000489037.2:c.3526_3527delinsTA	ENSP00000420781.2:p.Tyr1176=
ENST00000493919.6:c.647-895_647-894delinsTA	ENSP00000418819.2:n.647-895_647-894delinsTA
ENST00000494123.6:c.3604_3605delinsTA	ENSP00000419103.2:p.Tyr1202=
ENST00000497488.2:c.2716_2717delinsTA	ENSP00000418986.2:p.Tyr906=
ENST00000618469.2:c.3604_3605delinsTA	ENSP00000478114.2:p.Tyr1202=
ENST00000634433.2:c.3481_3482delinsTA	ENSP00000489431.2:p.Tyr1161=
ENST00000644379.2:c.3604_3605delinsTA	ENSP00000496570.2:p.Tyr1202=
ENST00000644555.2:c.647-895_647-894delinsTA	ENSP00000494614.2:n.647-895_647-894delinsTA
ENST00000652672.2:c.3463_3464delinsTA	ENSP00000498906.2:p.Tyr1155=
ENST00000484087.6:c.665-895_665-894delinsTA	ENSP00000419481.2:n.665-895_665-894delinsTA
ENST00000700182.1:c.707-895_707-894delinsTA	ENSP00000514849.1:n.707-895_707-894delinsTA
ENST00000357654.9:c.3604_3605delinsTA MANE Select	ENSP00000350283.3:p.Tyr1202=
ENST00000471181.7:c.3604_3605delinsTA	ENSP00000418960.2:p.Tyr1202=
ENST00000352993.7:c.671-895_671-894delinsTA	ENSP00000312236.5:n.671-895_671-894delinsTA
ENST00000354071.7:c.3604_3605delinsTA	ENSP00000326002.7:p.Tyr1202=
ENST00000357654.7:c.3604_3605delinsTA	ENSP00000350283.3:p.Tyr1202=
ENST00000461221.5:c.*3387_*3388delinsTA	ENSP00000418548.1:n.*3387_*3388delinsTA
ENST00000468300.5:c.788-895_788-894delinsTA	ENSP00000417148.1:n.788-895_788-894delinsTA
ENST00000471181.6:c.3604_3605delinsTA	ENSP00000418960.2:p.Tyr1202=
ENST00000478531.5:c.785-895_785-894delinsTA	ENSP00000420412.1:n.785-895_785-894delinsTA
ENST00000484087.5:c.410-895_410-894delinsTA	ENSP00000419481.1:n.410-895_410-894delinsTA
ENST00000487825.5:c.413-895_413-894delinsTA	ENSP00000418212.1:n.413-895_413-894delinsTA
ENST00000491747.6:c.788-895_788-894delinsTA	ENSP00000420705.2:n.788-895_788-894delinsTA
ENST00000493795.5:c.3463_3464delinsTA	ENSP00000418775.1:p.Tyr1155=
ENST00000493919.5:c.647-895_647-894delinsTA	ENSP00000418819.1:n.647-895_647-894delinsTA
ENST00000586385.5:c.5-27976_5-27975delinsTA	ENSP00000465818.1:n.5-27976_5-27975delinsTA
ENST00000591534.5:c.-43-17406_-43-17405delinsTA	ENSP00000467329.1:n.-43-17406_-43-17405delinsTA
ENST00000591849.5:c.-99+33344_-99+33345delinsTA	ENSP00000465347.1:n.-99+33344_-99+33345delinsTA
NM_007294.3:c.3604_3605delinsTA , LRG_292t1:c.3604_3605delinsTA	NP_009225.1:p.Tyr1202=
NM_007297.3:c.3463_3464delinsTA	NP_009228.2:p.Tyr1155=
NM_007298.3:c.788-895_788-894delinsTA	NP_009229.2:n.788-895_788-894delinsTA
NM_007299.3:c.788-895_788-894delinsTA	NP_009230.2:n.788-895_788-894delinsTA
NM_007300.3:c.3604_3605delinsTA	NP_009231.2:p.Tyr1202=
NR_027676.1:n.3740_3741delinsTA
NM_007294.4:c.3604_3605delinsTA MANE Select	NP_009225.1:p.Tyr1202=
NM_007297.4:c.3463_3464delinsTA	NP_009228.2:p.Tyr1155=
NM_007299.4:c.788-895_788-894delinsTA	NP_009230.2:n.788-895_788-894delinsTA
NM_007300.4:c.3604_3605delinsTA	NP_009231.2:p.Tyr1202=
NR_027676.2:n.3781_3782delinsTA