Canonical Allele Identifier: CA2260775465

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076516_43076520delinsTGGTA , CM000679.2:g.43076516_43076520delinsTGGTA	GRCh38
NC_000017.10:g.41228533_41228537delinsTGGTA , CM000679.1:g.41228533_41228537delinsTGGTA	GRCh37
NC_000017.9:g.38482059_38482063delinsTGGTA	NCBI36
NG_005905.2:g.141464_141468delinsTACCA , LRG_292:g.141464_141468delinsTACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4449_4453delinsTACCA	ENSP00000417241.2:p.Ser1483=
ENST00000470026.6:c.4452_4456delinsTACCA	ENSP00000419274.2:p.Ser1484=
ENST00000473961.6:c.4326_4330delinsTACCA	ENSP00000420201.2:p.Ser1442=
ENST00000476777.6:c.4446_4450delinsTACCA	ENSP00000417554.2:p.Ser1482=
ENST00000477152.6:c.4374_4378delinsTACCA	ENSP00000419988.2:p.Ser1458=
ENST00000478531.6:c.1140_1144delinsTACCA	ENSP00000420412.2:p.Ser380=
ENST00000489037.2:c.4374_4378delinsTACCA	ENSP00000420781.2:p.Ser1458=
ENST00000493919.6:c.1002_1006delinsTACCA	ENSP00000418819.2:p.Ser334=
ENST00000494123.6:c.4452_4456delinsTACCA	ENSP00000419103.2:p.Ser1484=
ENST00000497488.2:c.3564_3568delinsTACCA	ENSP00000418986.2:p.Ser1188=
ENST00000618469.2:c.4452_4456delinsTACCA	ENSP00000478114.2:p.Ser1484=
ENST00000634433.2:c.4329_4333delinsTACCA	ENSP00000489431.2:p.Ser1443=
ENST00000644379.2:c.4518_4522delinsTACCA	ENSP00000496570.2:p.Ser1506=
ENST00000644555.2:c.1002_1006delinsTACCA	ENSP00000494614.2:p.Ser334=
ENST00000652672.2:c.4311_4315delinsTACCA	ENSP00000498906.2:p.Ser1437=
ENST00000484087.6:c.1014_1018delinsTACCA	ENSP00000419481.2:p.Ser338=
ENST00000700182.1:c.1059_1063delinsTACCA	ENSP00000514849.1:p.Ser353=
ENST00000357654.9:c.4452_4456delinsTACCA MANE Select	ENSP00000350283.3:p.Ser1484=
ENST00000471181.7:c.4515_4519delinsTACCA	ENSP00000418960.2:p.Ser1505=
ENST00000644379.1:c.839_843delinsTACCA
ENST00000352993.7:c.1026_1030delinsTACCA	ENSP00000312236.5:p.Ser342=
ENST00000357654.7:c.4452_4456delinsTACCA	ENSP00000350283.3:p.Ser1484=
ENST00000461221.5:c.*4235_*4239delinsTACCA	ENSP00000418548.1:n.*4235_*4239delinsTACCA
ENST00000468300.5:c.1140_1144delinsTACCA	ENSP00000417148.1:p.Ser380=
ENST00000471181.6:c.4515_4519delinsTACCA	ENSP00000418960.2:p.Ser1505=
ENST00000478531.5:c.1140_1144delinsTACCA	ENSP00000420412.1:p.Ser380=
ENST00000484087.5:c.765_769delinsTACCA	ENSP00000419481.1:p.Ser255=
ENST00000487825.5:c.768_772delinsTACCA	ENSP00000418212.1:p.Ser256=
ENST00000491747.6:c.1140_1144delinsTACCA	ENSP00000420705.2:p.Ser380=
ENST00000493795.5:c.4311_4315delinsTACCA	ENSP00000418775.1:p.Ser1437=
ENST00000493919.5:c.1002_1006delinsTACCA	ENSP00000418819.1:p.Ser334=
ENST00000586385.5:c.5-12569_5-12565delinsTACCA	ENSP00000465818.1:n.5-12569_5-12565delinsTACCA
ENST00000591534.5:c.-43-1999_-43-1995delinsTACCA	ENSP00000467329.1:n.-43-1999_-43-1995delinsTACCA
ENST00000591849.5:c.-98-26330_-98-26326delinsTACCA	ENSP00000465347.1:n.-98-26330_-98-26326delinsTACCA
ENST00000621897.1:n.343_347delinsTACCA
NM_007294.3:c.4452_4456delinsTACCA , LRG_292t1:c.4452_4456delinsTACCA	NP_009225.1:p.Ser1484=
NM_007297.3:c.4311_4315delinsTACCA	NP_009228.2:p.Ser1437=
NM_007298.3:c.1140_1144delinsTACCA	NP_009229.2:p.Ser380=
NM_007299.3:c.1140_1144delinsTACCA	NP_009230.2:p.Ser380=
NM_007300.3:c.4515_4519delinsTACCA	NP_009231.2:p.Ser1505=
NR_027676.1:n.4588_4592delinsTACCA
NM_007294.4:c.4452_4456delinsTACCA MANE Select	NP_009225.1:p.Ser1484=
NM_007297.4:c.4311_4315delinsTACCA	NP_009228.2:p.Ser1437=
NM_007299.4:c.1140_1144delinsTACCA	NP_009230.2:p.Ser380=
NM_007300.4:c.4515_4519delinsTACCA	NP_009231.2:p.Ser1505=
NR_027676.2:n.4629_4633delinsTACCA