Canonical Allele Identifier: CA2260781943
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091464_43091469delinsTGATTA , CM000679.2:g.43091464_43091469delinsTGATTA GRCh38
NC_000017.10:g.41243481_41243486delinsTGATTA , CM000679.1:g.41243481_41243486delinsTGATTA GRCh37
NC_000017.9:g.38497007_38497012delinsTGATTA NCBI36
NG_005905.2:g.126515_126520delinsTAATCA , LRG_292:g.126515_126520delinsTAATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4126_4131delinsTAATCA
ENST00000461574.2:c.4062_4067delinsTAATCA ENSP00000417241.2:p.Asn1354=
ENST00000470026.6:c.4062_4067delinsTAATCA ENSP00000419274.2:p.Asn1354=
ENST00000473961.6:c.3936_3941delinsTAATCA ENSP00000420201.2:p.Asn1312=
ENST00000476777.6:c.4059_4064delinsTAATCA ENSP00000417554.2:p.Asn1353=
ENST00000477152.6:c.3984_3989delinsTAATCA ENSP00000419988.2:p.Asn1328=
ENST00000478531.6:c.785-437_785-432delinsTAATCA ENSP00000420412.2:n.785-437_785-432delinsTAATCA
ENST00000489037.2:c.3984_3989delinsTAATCA ENSP00000420781.2:p.Asn1328=
ENST00000493919.6:c.647-437_647-432delinsTAATCA ENSP00000418819.2:n.647-437_647-432delinsTAATCA
ENST00000494123.6:c.4062_4067delinsTAATCA ENSP00000419103.2:p.Asn1354=
ENST00000497488.2:c.3174_3179delinsTAATCA ENSP00000418986.2:p.Asn1058=
ENST00000618469.2:c.4062_4067delinsTAATCA ENSP00000478114.2:p.Asn1354=
ENST00000634433.2:c.3939_3944delinsTAATCA ENSP00000489431.2:p.Asn1313=
ENST00000644379.2:c.4062_4067delinsTAATCA ENSP00000496570.2:p.Asn1354=
ENST00000644555.2:c.647-437_647-432delinsTAATCA ENSP00000494614.2:n.647-437_647-432delinsTAATCA
ENST00000652672.2:c.3921_3926delinsTAATCA ENSP00000498906.2:p.Asn1307=
ENST00000484087.6:c.665-437_665-432delinsTAATCA ENSP00000419481.2:n.665-437_665-432delinsTAATCA
ENST00000700182.1:c.707-437_707-432delinsTAATCA ENSP00000514849.1:n.707-437_707-432delinsTAATCA
ENST00000357654.9:c.4062_4067delinsTAATCA MANE Select ENSP00000350283.3:p.Asn1354=
ENST00000471181.7:c.4062_4067delinsTAATCA ENSP00000418960.2:p.Asn1354=
ENST00000644379.1:c.383_388delinsTAATCA
ENST00000352993.7:c.671-437_671-432delinsTAATCA ENSP00000312236.5:n.671-437_671-432delinsTAATCA
ENST00000354071.7:c.4062_4067delinsTAATCA ENSP00000326002.7:p.Asn1354=
ENST00000357654.7:c.4062_4067delinsTAATCA ENSP00000350283.3:p.Asn1354=
ENST00000461221.5:c.*3845_*3850delinsTAATCA ENSP00000418548.1:n.*3845_*3850delinsTAATCA
ENST00000461574.1:c.356_361delinsTAATCA
ENST00000468300.5:c.788-437_788-432delinsTAATCA ENSP00000417148.1:n.788-437_788-432delinsTAATCA
ENST00000471181.6:c.4062_4067delinsTAATCA ENSP00000418960.2:p.Asn1354=
ENST00000478531.5:c.785-437_785-432delinsTAATCA ENSP00000420412.1:n.785-437_785-432delinsTAATCA
ENST00000484087.5:c.410-437_410-432delinsTAATCA ENSP00000419481.1:n.410-437_410-432delinsTAATCA
ENST00000487825.5:c.413-437_413-432delinsTAATCA ENSP00000418212.1:n.413-437_413-432delinsTAATCA
ENST00000491747.6:c.788-437_788-432delinsTAATCA ENSP00000420705.2:n.788-437_788-432delinsTAATCA
ENST00000493795.5:c.3921_3926delinsTAATCA ENSP00000418775.1:p.Asn1307=
ENST00000493919.5:c.647-437_647-432delinsTAATCA ENSP00000418819.1:n.647-437_647-432delinsTAATCA
ENST00000586385.5:c.5-27518_5-27513delinsTAATCA ENSP00000465818.1:n.5-27518_5-27513delinsTAATCA
ENST00000591534.5:c.-43-16948_-43-16943delinsTAATCA ENSP00000467329.1:n.-43-16948_-43-16943delinsTAATCA
ENST00000591849.5:c.-99+33802_-99+33807delinsTAATCA ENSP00000465347.1:n.-99+33802_-99+33807delinsTAATCA
NM_007294.3:c.4062_4067delinsTAATCA , LRG_292t1:c.4062_4067delinsTAATCA NP_009225.1:p.Asn1354=
NM_007297.3:c.3921_3926delinsTAATCA NP_009228.2:p.Asn1307=
NM_007298.3:c.788-437_788-432delinsTAATCA NP_009229.2:n.788-437_788-432delinsTAATCA
NM_007299.3:c.788-437_788-432delinsTAATCA NP_009230.2:n.788-437_788-432delinsTAATCA
NM_007300.3:c.4062_4067delinsTAATCA NP_009231.2:p.Asn1354=
NR_027676.1:n.4198_4203delinsTAATCA
NM_007294.4:c.4062_4067delinsTAATCA MANE Select NP_009225.1:p.Asn1354=
NM_007297.4:c.3921_3926delinsTAATCA NP_009228.2:p.Asn1307=
NM_007299.4:c.788-437_788-432delinsTAATCA NP_009230.2:n.788-437_788-432delinsTAATCA
NM_007300.4:c.4062_4067delinsTAATCA NP_009231.2:p.Asn1354=
NR_027676.2:n.4239_4244delinsTAATCA