Canonical Allele Identifier: CA2260783007
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092510_43092515delinsTGAATG , CM000679.2:g.43092510_43092515delinsTGAATG GRCh38
NC_000017.10:g.41244527_41244532delinsTGAATG , CM000679.1:g.41244527_41244532delinsTGAATG GRCh37
NC_000017.9:g.38498053_38498058delinsTGAATG NCBI36
NG_005905.2:g.125469_125474delinsCATTCA , LRG_292:g.125469_125474delinsCATTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3080_3085delinsCATTCA
ENST00000461574.2:c.3016_3021delinsCATTCA ENSP00000417241.2:p.His1006=
ENST00000470026.6:c.3016_3021delinsCATTCA ENSP00000419274.2:p.His1006=
ENST00000473961.6:c.2890_2895delinsCATTCA ENSP00000420201.2:p.His964=
ENST00000476777.6:c.3013_3018delinsCATTCA ENSP00000417554.2:p.His1005=
ENST00000477152.6:c.2938_2943delinsCATTCA ENSP00000419988.2:p.His980=
ENST00000478531.6:c.785-1483_785-1478delinsCATTCA ENSP00000420412.2:n.785-1483_785-1478delinsCATTCA
ENST00000489037.2:c.2938_2943delinsCATTCA ENSP00000420781.2:p.His980=
ENST00000493919.6:c.647-1483_647-1478delinsCATTCA ENSP00000418819.2:n.647-1483_647-1478delinsCATTCA
ENST00000494123.6:c.3016_3021delinsCATTCA ENSP00000419103.2:p.His1006=
ENST00000497488.2:c.2128_2133delinsCATTCA ENSP00000418986.2:p.His710=
ENST00000618469.2:c.3016_3021delinsCATTCA ENSP00000478114.2:p.His1006=
ENST00000634433.2:c.2893_2898delinsCATTCA ENSP00000489431.2:p.His965=
ENST00000644379.2:c.3016_3021delinsCATTCA ENSP00000496570.2:p.His1006=
ENST00000644555.2:c.647-1483_647-1478delinsCATTCA ENSP00000494614.2:n.647-1483_647-1478delinsCATTCA
ENST00000652672.2:c.2875_2880delinsCATTCA ENSP00000498906.2:p.His959=
ENST00000484087.6:c.665-1483_665-1478delinsCATTCA ENSP00000419481.2:n.665-1483_665-1478delinsCATTCA
ENST00000700182.1:c.707-1483_707-1478delinsCATTCA ENSP00000514849.1:n.707-1483_707-1478delinsCATTCA
ENST00000357654.9:c.3016_3021delinsCATTCA MANE Select ENSP00000350283.3:p.His1006=
ENST00000471181.7:c.3016_3021delinsCATTCA ENSP00000418960.2:p.His1006=
ENST00000352993.7:c.671-1483_671-1478delinsCATTCA ENSP00000312236.5:n.671-1483_671-1478delinsCATTCA
ENST00000354071.7:c.3016_3021delinsCATTCA ENSP00000326002.7:p.His1006=
ENST00000357654.7:c.3016_3021delinsCATTCA ENSP00000350283.3:p.His1006=
ENST00000461221.5:c.*2799_*2804delinsCATTCA ENSP00000418548.1:n.*2799_*2804delinsCATTCA
ENST00000468300.5:c.788-1483_788-1478delinsCATTCA ENSP00000417148.1:n.788-1483_788-1478delinsCATTCA
ENST00000471181.6:c.3016_3021delinsCATTCA ENSP00000418960.2:p.His1006=
ENST00000478531.5:c.785-1483_785-1478delinsCATTCA ENSP00000420412.1:n.785-1483_785-1478delinsCATTCA
ENST00000484087.5:c.410-1483_410-1478delinsCATTCA ENSP00000419481.1:n.410-1483_410-1478delinsCATTCA
ENST00000487825.5:c.413-1483_413-1478delinsCATTCA ENSP00000418212.1:n.413-1483_413-1478delinsCATTCA
ENST00000491747.6:c.788-1483_788-1478delinsCATTCA ENSP00000420705.2:n.788-1483_788-1478delinsCATTCA
ENST00000493795.5:c.2875_2880delinsCATTCA ENSP00000418775.1:p.His959=
ENST00000493919.5:c.647-1483_647-1478delinsCATTCA ENSP00000418819.1:n.647-1483_647-1478delinsCATTCA
ENST00000586385.5:c.5-28564_5-28559delinsCATTCA ENSP00000465818.1:n.5-28564_5-28559delinsCATTCA
ENST00000591534.5:c.-43-17994_-43-17989delinsCATTCA ENSP00000467329.1:n.-43-17994_-43-17989delinsCATTCA
ENST00000591849.5:c.-99+32756_-99+32761delinsCATTCA ENSP00000465347.1:n.-99+32756_-99+32761delinsCATTCA
NM_007294.3:c.3016_3021delinsCATTCA , LRG_292t1:c.3016_3021delinsCATTCA NP_009225.1:p.His1006=
NM_007297.3:c.2875_2880delinsCATTCA NP_009228.2:p.His959=
NM_007298.3:c.788-1483_788-1478delinsCATTCA NP_009229.2:n.788-1483_788-1478delinsCATTCA
NM_007299.3:c.788-1483_788-1478delinsCATTCA NP_009230.2:n.788-1483_788-1478delinsCATTCA
NM_007300.3:c.3016_3021delinsCATTCA NP_009231.2:p.His1006=
NR_027676.1:n.3152_3157delinsCATTCA
NM_007294.4:c.3016_3021delinsCATTCA MANE Select NP_009225.1:p.His1006=
NM_007297.4:c.2875_2880delinsCATTCA NP_009228.2:p.His959=
NM_007299.4:c.788-1483_788-1478delinsCATTCA NP_009230.2:n.788-1483_788-1478delinsCATTCA
NM_007300.4:c.3016_3021delinsCATTCA NP_009231.2:p.His1006=
NR_027676.2:n.3193_3198delinsCATTCA