Canonical Allele Identifier: CA2260782525
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092021_43092026delinsAATGTC , CM000679.2:g.43092021_43092026delinsAATGTC GRCh38
NC_000017.10:g.41244038_41244043delinsAATGTC , CM000679.1:g.41244038_41244043delinsAATGTC GRCh37
NC_000017.9:g.38497564_38497569delinsAATGTC NCBI36
NG_005905.2:g.125958_125963delinsGACATT , LRG_292:g.125958_125963delinsGACATT

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3569_3574delinsGACATT
ENST00000461574.2:c.3505_3510delinsGACATT ENSP00000417241.2:p.Asp1169=
ENST00000470026.6:c.3505_3510delinsGACATT ENSP00000419274.2:p.Asp1169=
ENST00000473961.6:c.3379_3384delinsGACATT ENSP00000420201.2:p.Asp1127=
ENST00000476777.6:c.3502_3507delinsGACATT ENSP00000417554.2:p.Asp1168=
ENST00000477152.6:c.3427_3432delinsGACATT ENSP00000419988.2:p.Asp1143=
ENST00000478531.6:c.785-994_785-989delinsGACATT ENSP00000420412.2:n.785-994_785-989delins...
ENST00000489037.2:c.3427_3432delinsGACATT ENSP00000420781.2:p.Asp1143=
ENST00000493919.6:c.647-994_647-989delinsGACATT ENSP00000418819.2:n.647-994_647-989delins...
ENST00000494123.6:c.3505_3510delinsGACATT ENSP00000419103.2:p.Asp1169=
ENST00000497488.2:c.2617_2622delinsGACATT ENSP00000418986.2:p.Asp873=
ENST00000618469.2:c.3505_3510delinsGACATT ENSP00000478114.2:p.Asp1169=
ENST00000634433.2:c.3382_3387delinsGACATT ENSP00000489431.2:p.Asp1128=
ENST00000644379.2:c.3505_3510delinsGACATT ENSP00000496570.2:p.Asp1169=
ENST00000644555.2:c.647-994_647-989delinsGACATT ENSP00000494614.2:n.647-994_647-989delins...
ENST00000652672.2:c.3364_3369delinsGACATT ENSP00000498906.2:p.Asp1122=
ENST00000484087.6:c.665-994_665-989delinsGACATT ENSP00000419481.2:n.665-994_665-989delins...
ENST00000700182.1:c.707-994_707-989delinsGACATT ENSP00000514849.1:n.707-994_707-989delins...
ENST00000357654.9:c.3505_3510delinsGACATT MANE Select ENSP00000350283.3:p.Asp1169=
ENST00000471181.7:c.3505_3510delinsGACATT ENSP00000418960.2:p.Asp1169=
ENST00000352993.7:c.671-994_671-989delinsGACATT ENSP00000312236.5:n.671-994_671-989delins...
ENST00000354071.7:c.3505_3510delinsGACATT ENSP00000326002.7:p.Asp1169=
ENST00000357654.7:c.3505_3510delinsGACATT ENSP00000350283.3:p.Asp1169=
ENST00000461221.5:c.*3288_*3293delinsGACATT ENSP00000418548.1:n.*3288_*3293delinsGACA...
ENST00000468300.5:c.788-994_788-989delinsGACATT ENSP00000417148.1:n.788-994_788-989delins...
ENST00000471181.6:c.3505_3510delinsGACATT ENSP00000418960.2:p.Asp1169=
ENST00000478531.5:c.785-994_785-989delinsGACATT ENSP00000420412.1:n.785-994_785-989delins...
ENST00000484087.5:c.410-994_410-989delinsGACATT ENSP00000419481.1:n.410-994_410-989delins...
ENST00000487825.5:c.413-994_413-989delinsGACATT ENSP00000418212.1:n.413-994_413-989delins...
ENST00000491747.6:c.788-994_788-989delinsGACATT ENSP00000420705.2:n.788-994_788-989delins...
ENST00000493795.5:c.3364_3369delinsGACATT ENSP00000418775.1:p.Asp1122=
ENST00000493919.5:c.647-994_647-989delinsGACATT ENSP00000418819.1:n.647-994_647-989delins...
ENST00000586385.5:c.5-28075_5-28070delinsGACATT ENSP00000465818.1:n.5-28075_5-28070delins...
ENST00000591534.5:c.-43-17505_-43-17500delinsGACATT ENSP00000467329.1:n.-43-17505_-43-17500de...
ENST00000591849.5:c.-99+33245_-99+33250delinsGACATT ENSP00000465347.1:n.-99+33245_-99+33250de...
NM_007294.3:c.3505_3510delinsGACATT , LRG_292t1:c.3505_3510delinsGACATT NP_009225.1:p.Asp1169=
NM_007297.3:c.3364_3369delinsGACATT NP_009228.2:p.Asp1122=
NM_007298.3:c.788-994_788-989delinsGACATT NP_009229.2:n.788-994_788-989delinsGACATT...
NM_007299.3:c.788-994_788-989delinsGACATT NP_009230.2:n.788-994_788-989delinsGACATT...
NM_007300.3:c.3505_3510delinsGACATT NP_009231.2:p.Asp1169=
NR_027676.1:n.3641_3646delinsGACATT
NM_007294.4:c.3505_3510delinsGACATT MANE Select NP_009225.1:p.Asp1169=
NM_007297.4:c.3364_3369delinsGACATT NP_009228.2:p.Asp1122=
NM_007299.4:c.788-994_788-989delinsGACATT NP_009230.2:n.788-994_788-989delinsGACATT...
NM_007300.4:c.3505_3510delinsGACATT NP_009231.2:p.Asp1169=
NR_027676.2:n.3682_3687delinsGACATT