Canonical Allele Identifier: CA2260781967
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091487_43091488delinsTC , CM000679.2:g.43091487_43091488delinsTC GRCh38
NC_000017.10:g.41243504_41243505delinsTC , CM000679.1:g.41243504_41243505delinsTC GRCh37
NC_000017.9:g.38497030_38497031delinsTC NCBI36
NG_005905.2:g.126496_126497delinsGA , LRG_292:g.126496_126497delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4107_4108delinsGA
ENST00000461574.2:c.4043_4044delinsGA ENSP00000417241.2:p.Gly1348=
ENST00000470026.6:c.4043_4044delinsGA ENSP00000419274.2:p.Gly1348=
ENST00000473961.6:c.3917_3918delinsGA ENSP00000420201.2:p.Gly1306=
ENST00000476777.6:c.4040_4041delinsGA ENSP00000417554.2:p.Gly1347=
ENST00000477152.6:c.3965_3966delinsGA ENSP00000419988.2:p.Gly1322=
ENST00000478531.6:c.785-456_785-455delinsGA ENSP00000420412.2:n.785-456_785-455delinsGA
ENST00000489037.2:c.3965_3966delinsGA ENSP00000420781.2:p.Gly1322=
ENST00000493919.6:c.647-456_647-455delinsGA ENSP00000418819.2:n.647-456_647-455delinsGA
ENST00000494123.6:c.4043_4044delinsGA ENSP00000419103.2:p.Gly1348=
ENST00000497488.2:c.3155_3156delinsGA ENSP00000418986.2:p.Gly1052=
ENST00000618469.2:c.4043_4044delinsGA ENSP00000478114.2:p.Gly1348=
ENST00000634433.2:c.3920_3921delinsGA ENSP00000489431.2:p.Gly1307=
ENST00000644379.2:c.4043_4044delinsGA ENSP00000496570.2:p.Gly1348=
ENST00000644555.2:c.647-456_647-455delinsGA ENSP00000494614.2:n.647-456_647-455delinsGA
ENST00000652672.2:c.3902_3903delinsGA ENSP00000498906.2:p.Gly1301=
ENST00000484087.6:c.665-456_665-455delinsGA ENSP00000419481.2:n.665-456_665-455delinsGA
ENST00000700182.1:c.707-456_707-455delinsGA ENSP00000514849.1:n.707-456_707-455delinsGA
ENST00000357654.9:c.4043_4044delinsGA MANE Select ENSP00000350283.3:p.Gly1348=
ENST00000471181.7:c.4043_4044delinsGA ENSP00000418960.2:p.Gly1348=
ENST00000644379.1:c.364_365delinsGA
ENST00000352993.7:c.671-456_671-455delinsGA ENSP00000312236.5:n.671-456_671-455delinsGA
ENST00000354071.7:c.4043_4044delinsGA ENSP00000326002.7:p.Gly1348=
ENST00000357654.7:c.4043_4044delinsGA ENSP00000350283.3:p.Gly1348=
ENST00000461221.5:c.*3826_*3827delinsGA ENSP00000418548.1:n.*3826_*3827delinsGA
ENST00000461574.1:c.337_338delinsGA
ENST00000468300.5:c.788-456_788-455delinsGA ENSP00000417148.1:n.788-456_788-455delinsGA
ENST00000471181.6:c.4043_4044delinsGA ENSP00000418960.2:p.Gly1348=
ENST00000478531.5:c.785-456_785-455delinsGA ENSP00000420412.1:n.785-456_785-455delinsGA
ENST00000484087.5:c.410-456_410-455delinsGA ENSP00000419481.1:n.410-456_410-455delinsGA
ENST00000487825.5:c.413-456_413-455delinsGA ENSP00000418212.1:n.413-456_413-455delinsGA
ENST00000491747.6:c.788-456_788-455delinsGA ENSP00000420705.2:n.788-456_788-455delinsGA
ENST00000493795.5:c.3902_3903delinsGA ENSP00000418775.1:p.Gly1301=
ENST00000493919.5:c.647-456_647-455delinsGA ENSP00000418819.1:n.647-456_647-455delinsGA
ENST00000586385.5:c.5-27537_5-27536delinsGA ENSP00000465818.1:n.5-27537_5-27536delinsGA
ENST00000591534.5:c.-43-16967_-43-16966delinsGA ENSP00000467329.1:n.-43-16967_-43-16966delinsGA
ENST00000591849.5:c.-99+33783_-99+33784delinsGA ENSP00000465347.1:n.-99+33783_-99+33784delinsGA
NM_007294.3:c.4043_4044delinsGA , LRG_292t1:c.4043_4044delinsGA NP_009225.1:p.Gly1348=
NM_007297.3:c.3902_3903delinsGA NP_009228.2:p.Gly1301=
NM_007298.3:c.788-456_788-455delinsGA NP_009229.2:n.788-456_788-455delinsGA
NM_007299.3:c.788-456_788-455delinsGA NP_009230.2:n.788-456_788-455delinsGA
NM_007300.3:c.4043_4044delinsGA NP_009231.2:p.Gly1348=
NR_027676.1:n.4179_4180delinsGA
NM_007294.4:c.4043_4044delinsGA MANE Select NP_009225.1:p.Gly1348=
NM_007297.4:c.3902_3903delinsGA NP_009228.2:p.Gly1301=
NM_007299.4:c.788-456_788-455delinsGA NP_009230.2:n.788-456_788-455delinsGA
NM_007300.4:c.4043_4044delinsGA NP_009231.2:p.Gly1348=
NR_027676.2:n.4220_4221delinsGA