Canonical Allele Identifier: CA2260772853
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071028_43071041delinsTCCATTGCATTATA , CM000679.2:g.43071028_43071041delinsTCCATTGCATTATA GRCh38
NC_000017.10:g.41223045_41223058delinsTCCATTGCATTATA , CM000679.1:g.41223045_41223058delinsTCCATTGCATTATA GRCh37
NC_000017.9:g.38476571_38476584delinsTCCATTGCATTATA NCBI36
NG_005905.2:g.146943_146956delinsTATAATGCAATGGA , LRG_292:g.146943_146956delinsTATAATGCAATGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4870_4883delinsTATAATGCAATGGA ENSP00000417241.2:p.Tyr1624=
ENST00000470026.6:c.4873_4886delinsTATAATGCAATGGA ENSP00000419274.2:p.Tyr1625=
ENST00000473961.6:c.4747_4760delinsTATAATGCAATGGA ENSP00000420201.2:p.Tyr1583=
ENST00000476777.6:c.4867_4880delinsTATAATGCAATGGA ENSP00000417554.2:p.Tyr1623=
ENST00000477152.6:c.4795_4808delinsTATAATGCAATGGA ENSP00000419988.2:p.Tyr1599=
ENST00000478531.6:c.1561_1574delinsTATAATGCAATGGA ENSP00000420412.2:p.Tyr521=
ENST00000489037.2:c.4795_4808delinsTATAATGCAATGGA ENSP00000420781.2:p.Tyr1599=
ENST00000493919.6:c.1423_1436delinsTATAATGCAATGGA ENSP00000418819.2:p.Tyr475=
ENST00000494123.6:c.4873_4886delinsTATAATGCAATGGA ENSP00000419103.2:p.Tyr1625=
ENST00000497488.2:c.3985_3998delinsTATAATGCAATGGA ENSP00000418986.2:p.Tyr1329=
ENST00000618469.2:c.4873_4886delinsTATAATGCAATGGA ENSP00000478114.2:p.Tyr1625=
ENST00000634433.2:c.4750_4763delinsTATAATGCAATGGA ENSP00000489431.2:p.Tyr1584=
ENST00000644379.2:c.4939_4952delinsTATAATGCAATGGA ENSP00000496570.2:p.Tyr1647=
ENST00000644555.2:c.1423_1436delinsTATAATGCAATGGA ENSP00000494614.2:p.Tyr475=
ENST00000652672.2:c.4732_4745delinsTATAATGCAATGGA ENSP00000498906.2:p.Tyr1578=
ENST00000484087.6:c.1435_1448delinsTATAATGCAATGGA ENSP00000419481.2:p.Tyr479=
ENST00000700182.1:c.1480_1493delinsTATAATGCAATGGA ENSP00000514849.1:p.Tyr494=
ENST00000357654.9:c.4873_4886delinsTATAATGCAATGGA MANE Select ENSP00000350283.3:p.Tyr1625=
ENST00000471181.7:c.4936_4949delinsTATAATGCAATGGA ENSP00000418960.2:p.Tyr1646=
ENST00000644379.1:c.1260_1273delinsTATAATGCAATGGA
ENST00000352993.7:c.1447_1460delinsTATAATGCAATGGA ENSP00000312236.5:p.Tyr483=
ENST00000357654.7:c.4873_4886delinsTATAATGCAATGGA ENSP00000350283.3:p.Tyr1625=
ENST00000461221.5:c.*4656_*4669delinsTATAATGCAATGGA ENSP00000418548.1:n.*4656_*4669delinsTATAATGCAATGGA
ENST00000468300.5:c.1561_1574delinsTATAATGCAATGGA ENSP00000417148.1:p.Tyr521=
ENST00000471181.6:c.4936_4949delinsTATAATGCAATGGA ENSP00000418960.2:p.Tyr1646=
ENST00000472490.1:n.26_39delinsTATAATGCAATGGA
ENST00000478531.5:c.1561_1574delinsTATAATGCAATGGA ENSP00000420412.1:p.Tyr521=
ENST00000484087.5:c.1186_1199delinsTATAATGCAATGGA ENSP00000419481.1:p.Tyr396=
ENST00000491747.6:c.1561_1574delinsTATAATGCAATGGA ENSP00000420705.2:p.Tyr521=
ENST00000493795.5:c.4732_4745delinsTATAATGCAATGGA ENSP00000418775.1:p.Tyr1578=
ENST00000493919.5:c.1423_1436delinsTATAATGCAATGGA ENSP00000418819.1:p.Tyr475=
ENST00000586385.5:c.5-7090_5-7077delinsTATAATGCAATGGA ENSP00000465818.1:n.5-7090_5-7077delinsTATAATGCAATGGA
ENST00000591534.5:c.346_359delinsTATAATGCAATGGA ENSP00000467329.1:p.Tyr116=
ENST00000591849.5:c.-98-20851_-98-20838delinsTATAATGCAATGGA ENSP00000465347.1:n.-98-20851_-98-20838delinsTATAATGCAATGGA
NM_007294.3:c.4873_4886delinsTATAATGCAATGGA , LRG_292t1:c.4873_4886delinsTATAATGCAATGGA NP_009225.1:p.Tyr1625=
NM_007297.3:c.4732_4745delinsTATAATGCAATGGA NP_009228.2:p.Tyr1578=
NM_007298.3:c.1561_1574delinsTATAATGCAATGGA NP_009229.2:p.Tyr521=
NM_007299.3:c.1561_1574delinsTATAATGCAATGGA NP_009230.2:p.Tyr521=
NM_007300.3:c.4936_4949delinsTATAATGCAATGGA NP_009231.2:p.Tyr1646=
NR_027676.1:n.5009_5022delinsTATAATGCAATGGA
NM_007294.4:c.4873_4886delinsTATAATGCAATGGA MANE Select NP_009225.1:p.Tyr1625=
NM_007297.4:c.4732_4745delinsTATAATGCAATGGA NP_009228.2:p.Tyr1578=
NM_007299.4:c.1561_1574delinsTATAATGCAATGGA NP_009230.2:p.Tyr521=
NM_007300.4:c.4936_4949delinsTATAATGCAATGGA NP_009231.2:p.Tyr1646=
NR_027676.2:n.5050_5063delinsTATAATGCAATGGA