Canonical Allele Identifier: CA2260775524

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076579_43076580delinsTA , CM000679.2:g.43076579_43076580delinsTA	GRCh38
NC_000017.10:g.41228596_41228597delinsTA , CM000679.1:g.41228596_41228597delinsTA	GRCh37
NC_000017.9:g.38482122_38482123delinsTA	NCBI36
NG_005905.2:g.141404_141405delinsTA , LRG_292:g.141404_141405delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4389_4390delinsTA	ENSP00000417241.2:p.Pro1463=
ENST00000470026.6:c.4392_4393delinsTA	ENSP00000419274.2:p.Pro1464=
ENST00000473961.6:c.4266_4267delinsTA	ENSP00000420201.2:p.Pro1422=
ENST00000476777.6:c.4386_4387delinsTA	ENSP00000417554.2:p.Pro1462=
ENST00000477152.6:c.4314_4315delinsTA	ENSP00000419988.2:p.Pro1438=
ENST00000478531.6:c.1080_1081delinsTA	ENSP00000420412.2:p.Pro360=
ENST00000489037.2:c.4314_4315delinsTA	ENSP00000420781.2:p.Pro1438=
ENST00000493919.6:c.942_943delinsTA	ENSP00000418819.2:p.Pro314=
ENST00000494123.6:c.4392_4393delinsTA	ENSP00000419103.2:p.Pro1464=
ENST00000497488.2:c.3504_3505delinsTA	ENSP00000418986.2:p.Pro1168=
ENST00000618469.2:c.4392_4393delinsTA	ENSP00000478114.2:p.Pro1464=
ENST00000634433.2:c.4269_4270delinsTA	ENSP00000489431.2:p.Pro1423=
ENST00000644379.2:c.4458_4459delinsTA	ENSP00000496570.2:p.Pro1486=
ENST00000644555.2:c.942_943delinsTA	ENSP00000494614.2:p.Pro314=
ENST00000652672.2:c.4251_4252delinsTA	ENSP00000498906.2:p.Pro1417=
ENST00000484087.6:c.954_955delinsTA	ENSP00000419481.2:p.Pro318=
ENST00000700182.1:c.999_1000delinsTA	ENSP00000514849.1:p.Pro333=
ENST00000357654.9:c.4392_4393delinsTA MANE Select	ENSP00000350283.3:p.Pro1464=
ENST00000471181.7:c.4455_4456delinsTA	ENSP00000418960.2:p.Pro1485=
ENST00000644379.1:c.779_780delinsTA
ENST00000352993.7:c.966_967delinsTA	ENSP00000312236.5:p.Pro322=
ENST00000357654.7:c.4392_4393delinsTA	ENSP00000350283.3:p.Pro1464=
ENST00000461221.5:c.*4175_*4176delinsTA	ENSP00000418548.1:n.*4175_*4176delinsTA
ENST00000461574.1:c.683_684delinsTA
ENST00000468300.5:c.1080_1081delinsTA	ENSP00000417148.1:p.Pro360=
ENST00000471181.6:c.4455_4456delinsTA	ENSP00000418960.2:p.Pro1485=
ENST00000478531.5:c.1080_1081delinsTA	ENSP00000420412.1:p.Pro360=
ENST00000484087.5:c.705_706delinsTA	ENSP00000419481.1:p.Pro235=
ENST00000487825.5:c.708_709delinsTA	ENSP00000418212.1:p.Pro236=
ENST00000491747.6:c.1080_1081delinsTA	ENSP00000420705.2:p.Pro360=
ENST00000493795.5:c.4251_4252delinsTA	ENSP00000418775.1:p.Pro1417=
ENST00000493919.5:c.942_943delinsTA	ENSP00000418819.1:p.Pro314=
ENST00000586385.5:c.5-12629_5-12628delinsTA	ENSP00000465818.1:n.5-12629_5-12628delinsTA
ENST00000591534.5:c.-43-2059_-43-2058delinsTA	ENSP00000467329.1:n.-43-2059_-43-2058delinsTA
ENST00000591849.5:c.-98-26390_-98-26389delinsTA	ENSP00000465347.1:n.-98-26390_-98-26389delinsTA
ENST00000621897.1:n.283_284delinsTA
NM_007294.3:c.4392_4393delinsTA , LRG_292t1:c.4392_4393delinsTA	NP_009225.1:p.Pro1464=
NM_007297.3:c.4251_4252delinsTA	NP_009228.2:p.Pro1417=
NM_007298.3:c.1080_1081delinsTA	NP_009229.2:p.Pro360=
NM_007299.3:c.1080_1081delinsTA	NP_009230.2:p.Pro360=
NM_007300.3:c.4455_4456delinsTA	NP_009231.2:p.Pro1485=
NR_027676.1:n.4528_4529delinsTA
NM_007294.4:c.4392_4393delinsTA MANE Select	NP_009225.1:p.Pro1464=
NM_007297.4:c.4251_4252delinsTA	NP_009228.2:p.Pro1417=
NM_007299.4:c.1080_1081delinsTA	NP_009230.2:p.Pro360=
NM_007300.4:c.4455_4456delinsTA	NP_009231.2:p.Pro1485=
NR_027676.2:n.4569_4570delinsTA