Canonical Allele Identifier: CA2260775460

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076514_43076515delinsAC , CM000679.2:g.43076514_43076515delinsAC	GRCh38
NC_000017.10:g.41228531_41228532delinsAC , CM000679.1:g.41228531_41228532delinsAC	GRCh37
NC_000017.9:g.38482057_38482058delinsAC	NCBI36
NG_005905.2:g.141469_141470delinsGT , LRG_292:g.141469_141470delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4454_4455delinsGT	ENSP00000417241.2:p.Ser1485=
ENST00000470026.6:c.4457_4458delinsGT	ENSP00000419274.2:p.Ser1486=
ENST00000473961.6:c.4331_4332delinsGT	ENSP00000420201.2:p.Ser1444=
ENST00000476777.6:c.4451_4452delinsGT	ENSP00000417554.2:p.Ser1484=
ENST00000477152.6:c.4379_4380delinsGT	ENSP00000419988.2:p.Ser1460=
ENST00000478531.6:c.1145_1146delinsGT	ENSP00000420412.2:p.Ser382=
ENST00000489037.2:c.4379_4380delinsGT	ENSP00000420781.2:p.Ser1460=
ENST00000493919.6:c.1007_1008delinsGT	ENSP00000418819.2:p.Ser336=
ENST00000494123.6:c.4457_4458delinsGT	ENSP00000419103.2:p.Ser1486=
ENST00000497488.2:c.3569_3570delinsGT	ENSP00000418986.2:p.Ser1190=
ENST00000618469.2:c.4457_4458delinsGT	ENSP00000478114.2:p.Ser1486=
ENST00000634433.2:c.4334_4335delinsGT	ENSP00000489431.2:p.Ser1445=
ENST00000644379.2:c.4523_4524delinsGT	ENSP00000496570.2:p.Ser1508=
ENST00000644555.2:c.1007_1008delinsGT	ENSP00000494614.2:p.Ser336=
ENST00000652672.2:c.4316_4317delinsGT	ENSP00000498906.2:p.Ser1439=
ENST00000484087.6:c.1019_1020delinsGT	ENSP00000419481.2:p.Ser340=
ENST00000700182.1:c.1064_1065delinsGT	ENSP00000514849.1:p.Ser355=
ENST00000357654.9:c.4457_4458delinsGT MANE Select	ENSP00000350283.3:p.Ser1486=
ENST00000471181.7:c.4520_4521delinsGT	ENSP00000418960.2:p.Ser1507=
ENST00000644379.1:c.844_845delinsGT
ENST00000352993.7:c.1031_1032delinsGT	ENSP00000312236.5:p.Ser344=
ENST00000357654.7:c.4457_4458delinsGT	ENSP00000350283.3:p.Ser1486=
ENST00000461221.5:c.*4240_*4241delinsGT	ENSP00000418548.1:n.*4240_*4241delinsGT
ENST00000468300.5:c.1145_1146delinsGT	ENSP00000417148.1:p.Ser382=
ENST00000471181.6:c.4520_4521delinsGT	ENSP00000418960.2:p.Ser1507=
ENST00000478531.5:c.1145_1146delinsGT	ENSP00000420412.1:p.Ser382=
ENST00000484087.5:c.770_771delinsGT	ENSP00000419481.1:p.Ser257=
ENST00000487825.5:c.773_774delinsGT	ENSP00000418212.1:p.Ser258=
ENST00000491747.6:c.1145_1146delinsGT	ENSP00000420705.2:p.Ser382=
ENST00000493795.5:c.4316_4317delinsGT	ENSP00000418775.1:p.Ser1439=
ENST00000493919.5:c.1007_1008delinsGT	ENSP00000418819.1:p.Ser336=
ENST00000586385.5:c.5-12564_5-12563delinsGT	ENSP00000465818.1:n.5-12564_5-12563delinsGT
ENST00000591534.5:c.-43-1994_-43-1993delinsGT	ENSP00000467329.1:n.-43-1994_-43-1993delinsGT
ENST00000591849.5:c.-98-26325_-98-26324delinsGT	ENSP00000465347.1:n.-98-26325_-98-26324delinsGT
ENST00000621897.1:n.348_349delinsGT
NM_007294.3:c.4457_4458delinsGT , LRG_292t1:c.4457_4458delinsGT	NP_009225.1:p.Ser1486=
NM_007297.3:c.4316_4317delinsGT	NP_009228.2:p.Ser1439=
NM_007298.3:c.1145_1146delinsGT	NP_009229.2:p.Ser382=
NM_007299.3:c.1145_1146delinsGT	NP_009230.2:p.Ser382=
NM_007300.3:c.4520_4521delinsGT	NP_009231.2:p.Ser1507=
NR_027676.1:n.4593_4594delinsGT
NM_007294.4:c.4457_4458delinsGT MANE Select	NP_009225.1:p.Ser1486=
NM_007297.4:c.4316_4317delinsGT	NP_009228.2:p.Ser1439=
NM_007299.4:c.1145_1146delinsGT	NP_009230.2:p.Ser382=
NM_007300.4:c.4520_4521delinsGT	NP_009231.2:p.Ser1507=
NR_027676.2:n.4634_4635delinsGT