Canonical Allele Identifier: CA2260782885
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092385_43092386delinsGA , CM000679.2:g.43092385_43092386delinsGA GRCh38
NC_000017.10:g.41244402_41244403delinsGA , CM000679.1:g.41244402_41244403delinsGA GRCh37
NC_000017.9:g.38497928_38497929delinsGA NCBI36
NG_005905.2:g.125598_125599delinsTC , LRG_292:g.125598_125599delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3209_3210delinsTC
ENST00000461574.2:c.3145_3146delinsTC ENSP00000417241.2:p.Ser1049=
ENST00000470026.6:c.3145_3146delinsTC ENSP00000419274.2:p.Ser1049=
ENST00000473961.6:c.3019_3020delinsTC ENSP00000420201.2:p.Ser1007=
ENST00000476777.6:c.3142_3143delinsTC ENSP00000417554.2:p.Ser1048=
ENST00000477152.6:c.3067_3068delinsTC ENSP00000419988.2:p.Ser1023=
ENST00000478531.6:c.785-1354_785-1353delinsTC ENSP00000420412.2:n.785-1354_785-1353delinsTC
ENST00000489037.2:c.3067_3068delinsTC ENSP00000420781.2:p.Ser1023=
ENST00000493919.6:c.647-1354_647-1353delinsTC ENSP00000418819.2:n.647-1354_647-1353delinsTC
ENST00000494123.6:c.3145_3146delinsTC ENSP00000419103.2:p.Ser1049=
ENST00000497488.2:c.2257_2258delinsTC ENSP00000418986.2:p.Ser753=
ENST00000618469.2:c.3145_3146delinsTC ENSP00000478114.2:p.Ser1049=
ENST00000634433.2:c.3022_3023delinsTC ENSP00000489431.2:p.Ser1008=
ENST00000644379.2:c.3145_3146delinsTC ENSP00000496570.2:p.Ser1049=
ENST00000644555.2:c.647-1354_647-1353delinsTC ENSP00000494614.2:n.647-1354_647-1353delinsTC
ENST00000652672.2:c.3004_3005delinsTC ENSP00000498906.2:p.Ser1002=
ENST00000484087.6:c.665-1354_665-1353delinsTC ENSP00000419481.2:n.665-1354_665-1353delinsTC
ENST00000700182.1:c.707-1354_707-1353delinsTC ENSP00000514849.1:n.707-1354_707-1353delinsTC
ENST00000357654.9:c.3145_3146delinsTC MANE Select ENSP00000350283.3:p.Ser1049=
ENST00000471181.7:c.3145_3146delinsTC ENSP00000418960.2:p.Ser1049=
ENST00000352993.7:c.671-1354_671-1353delinsTC ENSP00000312236.5:n.671-1354_671-1353delinsTC
ENST00000354071.7:c.3145_3146delinsTC ENSP00000326002.7:p.Ser1049=
ENST00000357654.7:c.3145_3146delinsTC ENSP00000350283.3:p.Ser1049=
ENST00000461221.5:c.*2928_*2929delinsTC ENSP00000418548.1:n.*2928_*2929delinsTC
ENST00000468300.5:c.788-1354_788-1353delinsTC ENSP00000417148.1:n.788-1354_788-1353delinsTC
ENST00000471181.6:c.3145_3146delinsTC ENSP00000418960.2:p.Ser1049=
ENST00000478531.5:c.785-1354_785-1353delinsTC ENSP00000420412.1:n.785-1354_785-1353delinsTC
ENST00000484087.5:c.410-1354_410-1353delinsTC ENSP00000419481.1:n.410-1354_410-1353delinsTC
ENST00000487825.5:c.413-1354_413-1353delinsTC ENSP00000418212.1:n.413-1354_413-1353delinsTC
ENST00000491747.6:c.788-1354_788-1353delinsTC ENSP00000420705.2:n.788-1354_788-1353delinsTC
ENST00000493795.5:c.3004_3005delinsTC ENSP00000418775.1:p.Ser1002=
ENST00000493919.5:c.647-1354_647-1353delinsTC ENSP00000418819.1:n.647-1354_647-1353delinsTC
ENST00000586385.5:c.5-28435_5-28434delinsTC ENSP00000465818.1:n.5-28435_5-28434delinsTC
ENST00000591534.5:c.-43-17865_-43-17864delinsTC ENSP00000467329.1:n.-43-17865_-43-17864delinsTC
ENST00000591849.5:c.-99+32885_-99+32886delinsTC ENSP00000465347.1:n.-99+32885_-99+32886delinsTC
NM_007294.3:c.3145_3146delinsTC , LRG_292t1:c.3145_3146delinsTC NP_009225.1:p.Ser1049=
NM_007297.3:c.3004_3005delinsTC NP_009228.2:p.Ser1002=
NM_007298.3:c.788-1354_788-1353delinsTC NP_009229.2:n.788-1354_788-1353delinsTC
NM_007299.3:c.788-1354_788-1353delinsTC NP_009230.2:n.788-1354_788-1353delinsTC
NM_007300.3:c.3145_3146delinsTC NP_009231.2:p.Ser1049=
NR_027676.1:n.3281_3282delinsTC
NM_007294.4:c.3145_3146delinsTC MANE Select NP_009225.1:p.Ser1049=
NM_007297.4:c.3004_3005delinsTC NP_009228.2:p.Ser1002=
NM_007299.4:c.788-1354_788-1353delinsTC NP_009230.2:n.788-1354_788-1353delinsTC
NM_007300.4:c.3145_3146delinsTC NP_009231.2:p.Ser1049=
NR_027676.2:n.3322_3323delinsTC