Canonical Allele Identifier: CA2260774417

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074332_43074352delinsTAGATCTTGCCTTGGCAAGTA , CM000679.2:g.43074332_43074352delinsTAGATCTTGCCTTGGCAAGTA	GRCh38
NC_000017.10:g.41226349_41226369delinsTAGATCTTGCCTTGGCAAGTA , CM000679.1:g.41226349_41226369delinsTAGATCTTGCCTTGGCAAGTA	GRCh37
NC_000017.9:g.38479875_38479895delinsTAGATCTTGCCTTGGCAAGTA	NCBI36
NG_005905.2:g.143632_143652delinsTACTTGCCAAGGCAAGATCTA , LRG_292:g.143632_143652delinsTACTTGCCAAGGCAAGATCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4651_4671delinsTACTTGCCAAGGCAAGATCTA	ENSP00000417241.2:p.Tyr1551=
ENST00000470026.6:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA	ENSP00000419274.2:p.Tyr1552=
ENST00000473961.6:c.4528_4548delinsTACTTGCCAAGGCAAGATCTA	ENSP00000420201.2:p.Tyr1510=
ENST00000476777.6:c.4648_4668delinsTACTTGCCAAGGCAAGATCTA	ENSP00000417554.2:p.Tyr1550=
ENST00000477152.6:c.4576_4596delinsTACTTGCCAAGGCAAGATCTA	ENSP00000419988.2:p.Tyr1526=
ENST00000478531.6:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	ENSP00000420412.2:p.Tyr448=
ENST00000489037.2:c.4576_4596delinsTACTTGCCAAGGCAAGATCTA	ENSP00000420781.2:p.Tyr1526=
ENST00000493919.6:c.1204_1224delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418819.2:p.Tyr402=
ENST00000494123.6:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA	ENSP00000419103.2:p.Tyr1552=
ENST00000497488.2:c.3766_3786delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418986.2:p.Tyr1256=
ENST00000618469.2:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA	ENSP00000478114.2:p.Tyr1552=
ENST00000634433.2:c.4531_4551delinsTACTTGCCAAGGCAAGATCTA	ENSP00000489431.2:p.Tyr1511=
ENST00000644379.2:c.4720_4740delinsTACTTGCCAAGGCAAGATCTA	ENSP00000496570.2:p.Tyr1574=
ENST00000644555.2:c.1204_1224delinsTACTTGCCAAGGCAAGATCTA	ENSP00000494614.2:p.Tyr402=
ENST00000652672.2:c.4513_4533delinsTACTTGCCAAGGCAAGATCTA	ENSP00000498906.2:p.Tyr1505=
ENST00000484087.6:c.1216_1236delinsTACTTGCCAAGGCAAGATCTA	ENSP00000419481.2:p.Tyr406=
ENST00000700182.1:c.1261_1281delinsTACTTGCCAAGGCAAGATCTA	ENSP00000514849.1:p.Tyr421=
ENST00000357654.9:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA MANE Select	ENSP00000350283.3:p.Tyr1552=
ENST00000471181.7:c.4717_4737delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418960.2:p.Tyr1573=
ENST00000644379.1:c.1041_1061delinsTACTTGCCAAGGCAAGATCTA
ENST00000352993.7:c.1228_1248delinsTACTTGCCAAGGCAAGATCTA	ENSP00000312236.5:p.Tyr410=
ENST00000357654.7:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA	ENSP00000350283.3:p.Tyr1552=
ENST00000461221.5:c.*4437_*4457delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418548.1:n.*4437_*4457delinsTACT...
ENST00000468300.5:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	ENSP00000417148.1:p.Tyr448=
ENST00000471181.6:c.4717_4737delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418960.2:p.Tyr1573=
ENST00000478531.5:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	ENSP00000420412.1:p.Tyr448=
ENST00000484087.5:c.967_987delinsTACTTGCCAAGGCAAGATCTA	ENSP00000419481.1:p.Tyr323=
ENST00000491747.6:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	ENSP00000420705.2:p.Tyr448=
ENST00000493795.5:c.4513_4533delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418775.1:p.Tyr1505=
ENST00000493919.5:c.1204_1224delinsTACTTGCCAAGGCAAGATCTA	ENSP00000418819.1:p.Tyr402=
ENST00000586385.5:c.5-10401_5-10381delinsTACTTGCCAAGGCAAGATCTA	ENSP00000465818.1:n.5-10401_5-10381delins...
ENST00000591534.5:c.127_147delinsTACTTGCCAAGGCAAGATCTA	ENSP00000467329.1:p.Tyr43=
ENST00000591849.5:c.-98-24162_-98-24142delinsTACTTGCCAAGGCAAGATCTA	ENSP00000465347.1:n.-98-24162_-98-24142de...
NM_007294.3:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA , LRG_292t1:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA	NP_009225.1:p.Tyr1552=
NM_007297.3:c.4513_4533delinsTACTTGCCAAGGCAAGATCTA	NP_009228.2:p.Tyr1505=
NM_007298.3:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	NP_009229.2:p.Tyr448=
NM_007299.3:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	NP_009230.2:p.Tyr448=
NM_007300.3:c.4717_4737delinsTACTTGCCAAGGCAAGATCTA	NP_009231.2:p.Tyr1573=
NR_027676.1:n.4790_4810delinsTACTTGCCAAGGCAAGATCTA
NM_007294.4:c.4654_4674delinsTACTTGCCAAGGCAAGATCTA MANE Select	NP_009225.1:p.Tyr1552=
NM_007297.4:c.4513_4533delinsTACTTGCCAAGGCAAGATCTA	NP_009228.2:p.Tyr1505=
NM_007299.4:c.1342_1362delinsTACTTGCCAAGGCAAGATCTA	NP_009230.2:p.Tyr448=
NM_007300.4:c.4717_4737delinsTACTTGCCAAGGCAAGATCTA	NP_009231.2:p.Tyr1573=
NR_027676.2:n.4831_4851delinsTACTTGCCAAGGCAAGATCTA