Canonical Allele Identifier: CA2260783143
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092603_43092604delinsGT , CM000679.2:g.43092603_43092604delinsGT GRCh38
NC_000017.10:g.41244620_41244621delinsGT , CM000679.1:g.41244620_41244621delinsGT GRCh37
NC_000017.9:g.38498146_38498147delinsGT NCBI36
NG_005905.2:g.125380_125381delinsAC , LRG_292:g.125380_125381delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2991_2992delinsAC
ENST00000461574.2:c.2927_2928delinsAC ENSP00000417241.2:p.Asn976=
ENST00000470026.6:c.2927_2928delinsAC ENSP00000419274.2:p.Asn976=
ENST00000473961.6:c.2801_2802delinsAC ENSP00000420201.2:p.Asn934=
ENST00000476777.6:c.2924_2925delinsAC ENSP00000417554.2:p.Asn975=
ENST00000477152.6:c.2849_2850delinsAC ENSP00000419988.2:p.Asn950=
ENST00000478531.6:c.785-1572_785-1571delinsAC ENSP00000420412.2:n.785-1572_785-1571deli...
ENST00000489037.2:c.2849_2850delinsAC ENSP00000420781.2:p.Asn950=
ENST00000493919.6:c.647-1572_647-1571delinsAC ENSP00000418819.2:n.647-1572_647-1571deli...
ENST00000494123.6:c.2927_2928delinsAC ENSP00000419103.2:p.Asn976=
ENST00000497488.2:c.2039_2040delinsAC ENSP00000418986.2:p.Asn680=
ENST00000618469.2:c.2927_2928delinsAC ENSP00000478114.2:p.Asn976=
ENST00000634433.2:c.2804_2805delinsAC ENSP00000489431.2:p.Asn935=
ENST00000644379.2:c.2927_2928delinsAC ENSP00000496570.2:p.Asn976=
ENST00000644555.2:c.647-1572_647-1571delinsAC ENSP00000494614.2:n.647-1572_647-1571deli...
ENST00000652672.2:c.2786_2787delinsAC ENSP00000498906.2:p.Asn929=
ENST00000484087.6:c.665-1572_665-1571delinsAC ENSP00000419481.2:n.665-1572_665-1571deli...
ENST00000700182.1:c.707-1572_707-1571delinsAC ENSP00000514849.1:n.707-1572_707-1571deli...
ENST00000357654.9:c.2927_2928delinsAC MANE Select ENSP00000350283.3:p.Asn976=
ENST00000471181.7:c.2927_2928delinsAC ENSP00000418960.2:p.Asn976=
ENST00000352993.7:c.671-1572_671-1571delinsAC ENSP00000312236.5:n.671-1572_671-1571deli...
ENST00000354071.7:c.2927_2928delinsAC ENSP00000326002.7:p.Asn976=
ENST00000357654.7:c.2927_2928delinsAC ENSP00000350283.3:p.Asn976=
ENST00000461221.5:c.*2710_*2711delinsAC ENSP00000418548.1:n.*2710_*2711delinsAC
ENST00000468300.5:c.788-1572_788-1571delinsAC ENSP00000417148.1:n.788-1572_788-1571deli...
ENST00000471181.6:c.2927_2928delinsAC ENSP00000418960.2:p.Asn976=
ENST00000478531.5:c.785-1572_785-1571delinsAC ENSP00000420412.1:n.785-1572_785-1571deli...
ENST00000484087.5:c.410-1572_410-1571delinsAC ENSP00000419481.1:n.410-1572_410-1571deli...
ENST00000487825.5:c.413-1572_413-1571delinsAC ENSP00000418212.1:n.413-1572_413-1571deli...
ENST00000491747.6:c.788-1572_788-1571delinsAC ENSP00000420705.2:n.788-1572_788-1571deli...
ENST00000493795.5:c.2786_2787delinsAC ENSP00000418775.1:p.Asn929=
ENST00000493919.5:c.647-1572_647-1571delinsAC ENSP00000418819.1:n.647-1572_647-1571deli...
ENST00000586385.5:c.5-28653_5-28652delinsAC ENSP00000465818.1:n.5-28653_5-28652delins...
ENST00000591534.5:c.-43-18083_-43-18082delinsAC ENSP00000467329.1:n.-43-18083_-43-18082de...
ENST00000591849.5:c.-99+32667_-99+32668delinsAC ENSP00000465347.1:n.-99+32667_-99+32668de...
NM_007294.3:c.2927_2928delinsAC , LRG_292t1:c.2927_2928delinsAC NP_009225.1:p.Asn976=
NM_007297.3:c.2786_2787delinsAC NP_009228.2:p.Asn929=
NM_007298.3:c.788-1572_788-1571delinsAC NP_009229.2:n.788-1572_788-1571delinsAC
NM_007299.3:c.788-1572_788-1571delinsAC NP_009230.2:n.788-1572_788-1571delinsAC
NM_007300.3:c.2927_2928delinsAC NP_009231.2:p.Asn976=
NR_027676.1:n.3063_3064delinsAC
NM_007294.4:c.2927_2928delinsAC MANE Select NP_009225.1:p.Asn976=
NM_007297.4:c.2786_2787delinsAC NP_009228.2:p.Asn929=
NM_007299.4:c.788-1572_788-1571delinsAC NP_009230.2:n.788-1572_788-1571delinsAC
NM_007300.4:c.2927_2928delinsAC NP_009231.2:p.Asn976=
NR_027676.2:n.3104_3105delinsAC