Canonical Allele Identifier: CA2260781947
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091465_43091469delinsGATTA , CM000679.2:g.43091465_43091469delinsGATTA GRCh38
NC_000017.10:g.41243482_41243486delinsGATTA , CM000679.1:g.41243482_41243486delinsGATTA GRCh37
NC_000017.9:g.38497008_38497012delinsGATTA NCBI36
NG_005905.2:g.126515_126519delinsTAATC , LRG_292:g.126515_126519delinsTAATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4126_4130delinsTAATC
ENST00000461574.2:c.4062_4066delinsTAATC ENSP00000417241.2:p.Asn1354=
ENST00000470026.6:c.4062_4066delinsTAATC ENSP00000419274.2:p.Asn1354=
ENST00000473961.6:c.3936_3940delinsTAATC ENSP00000420201.2:p.Asn1312=
ENST00000476777.6:c.4059_4063delinsTAATC ENSP00000417554.2:p.Asn1353=
ENST00000477152.6:c.3984_3988delinsTAATC ENSP00000419988.2:p.Asn1328=
ENST00000478531.6:c.785-437_785-433delinsTAATC ENSP00000420412.2:n.785-437_785-433delinsTAATC
ENST00000489037.2:c.3984_3988delinsTAATC ENSP00000420781.2:p.Asn1328=
ENST00000493919.6:c.647-437_647-433delinsTAATC ENSP00000418819.2:n.647-437_647-433delinsTAATC
ENST00000494123.6:c.4062_4066delinsTAATC ENSP00000419103.2:p.Asn1354=
ENST00000497488.2:c.3174_3178delinsTAATC ENSP00000418986.2:p.Asn1058=
ENST00000618469.2:c.4062_4066delinsTAATC ENSP00000478114.2:p.Asn1354=
ENST00000634433.2:c.3939_3943delinsTAATC ENSP00000489431.2:p.Asn1313=
ENST00000644379.2:c.4062_4066delinsTAATC ENSP00000496570.2:p.Asn1354=
ENST00000644555.2:c.647-437_647-433delinsTAATC ENSP00000494614.2:n.647-437_647-433delinsTAATC
ENST00000652672.2:c.3921_3925delinsTAATC ENSP00000498906.2:p.Asn1307=
ENST00000484087.6:c.665-437_665-433delinsTAATC ENSP00000419481.2:n.665-437_665-433delinsTAATC
ENST00000700182.1:c.707-437_707-433delinsTAATC ENSP00000514849.1:n.707-437_707-433delinsTAATC
ENST00000357654.9:c.4062_4066delinsTAATC MANE Select ENSP00000350283.3:p.Asn1354=
ENST00000471181.7:c.4062_4066delinsTAATC ENSP00000418960.2:p.Asn1354=
ENST00000644379.1:c.383_387delinsTAATC
ENST00000352993.7:c.671-437_671-433delinsTAATC ENSP00000312236.5:n.671-437_671-433delinsTAATC
ENST00000354071.7:c.4062_4066delinsTAATC ENSP00000326002.7:p.Asn1354=
ENST00000357654.7:c.4062_4066delinsTAATC ENSP00000350283.3:p.Asn1354=
ENST00000461221.5:c.*3845_*3849delinsTAATC ENSP00000418548.1:n.*3845_*3849delinsTAATC
ENST00000461574.1:c.356_360delinsTAATC
ENST00000468300.5:c.788-437_788-433delinsTAATC ENSP00000417148.1:n.788-437_788-433delinsTAATC
ENST00000471181.6:c.4062_4066delinsTAATC ENSP00000418960.2:p.Asn1354=
ENST00000478531.5:c.785-437_785-433delinsTAATC ENSP00000420412.1:n.785-437_785-433delinsTAATC
ENST00000484087.5:c.410-437_410-433delinsTAATC ENSP00000419481.1:n.410-437_410-433delinsTAATC
ENST00000487825.5:c.413-437_413-433delinsTAATC ENSP00000418212.1:n.413-437_413-433delinsTAATC
ENST00000491747.6:c.788-437_788-433delinsTAATC ENSP00000420705.2:n.788-437_788-433delinsTAATC
ENST00000493795.5:c.3921_3925delinsTAATC ENSP00000418775.1:p.Asn1307=
ENST00000493919.5:c.647-437_647-433delinsTAATC ENSP00000418819.1:n.647-437_647-433delinsTAATC
ENST00000586385.5:c.5-27518_5-27514delinsTAATC ENSP00000465818.1:n.5-27518_5-27514delinsTAATC
ENST00000591534.5:c.-43-16948_-43-16944delinsTAATC ENSP00000467329.1:n.-43-16948_-43-16944delinsTAATC
ENST00000591849.5:c.-99+33802_-99+33806delinsTAATC ENSP00000465347.1:n.-99+33802_-99+33806delinsTAATC
NM_007294.3:c.4062_4066delinsTAATC , LRG_292t1:c.4062_4066delinsTAATC NP_009225.1:p.Asn1354=
NM_007297.3:c.3921_3925delinsTAATC NP_009228.2:p.Asn1307=
NM_007298.3:c.788-437_788-433delinsTAATC NP_009229.2:n.788-437_788-433delinsTAATC
NM_007299.3:c.788-437_788-433delinsTAATC NP_009230.2:n.788-437_788-433delinsTAATC
NM_007300.3:c.4062_4066delinsTAATC NP_009231.2:p.Asn1354=
NR_027676.1:n.4198_4202delinsTAATC
NM_007294.4:c.4062_4066delinsTAATC MANE Select NP_009225.1:p.Asn1354=
NM_007297.4:c.3921_3925delinsTAATC NP_009228.2:p.Asn1307=
NM_007299.4:c.788-437_788-433delinsTAATC NP_009230.2:n.788-437_788-433delinsTAATC
NM_007300.4:c.4062_4066delinsTAATC NP_009231.2:p.Asn1354=
NR_027676.2:n.4239_4243delinsTAATC