Canonical Allele Identifier: CA2260769514
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063896_43063897delinsTC , CM000679.2:g.43063896_43063897delinsTC GRCh38
NC_000017.10:g.41215913_41215914delinsTC , CM000679.1:g.41215913_41215914delinsTC GRCh37
NC_000017.9:g.38469439_38469440delinsTC NCBI36
NG_005905.2:g.154087_154088delinsGA , LRG_292:g.154087_154088delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5126_5127delinsGA ENSP00000417241.2:p.Gly1709=
ENST00000470026.6:c.5129_5130delinsGA ENSP00000419274.2:p.Gly1710=
ENST00000473961.6:c.5003_5004delinsGA ENSP00000420201.2:p.Gly1668=
ENST00000476777.6:c.5123_5124delinsGA ENSP00000417554.2:p.Gly1708=
ENST00000477152.6:c.5051_5052delinsGA ENSP00000419988.2:p.Gly1684=
ENST00000478531.6:c.1817_1818delinsGA ENSP00000420412.2:p.Gly606=
ENST00000489037.2:c.5051_5052delinsGA ENSP00000420781.2:p.Gly1684=
ENST00000493919.6:c.1679_1680delinsGA ENSP00000418819.2:p.Gly560=
ENST00000494123.6:c.5129_5130delinsGA ENSP00000419103.2:p.Gly1710=
ENST00000497488.2:c.4241_4242delinsGA ENSP00000418986.2:p.Gly1414=
ENST00000618469.2:c.5129_5130delinsGA ENSP00000478114.2:p.Gly1710=
ENST00000634433.2:c.5006_5007delinsGA ENSP00000489431.2:p.Gly1669=
ENST00000644379.2:c.5195_5196delinsGA ENSP00000496570.2:p.Gly1732=
ENST00000644555.2:c.1679_1680delinsGA ENSP00000494614.2:p.Gly560=
ENST00000652672.2:c.4988_4989delinsGA ENSP00000498906.2:p.Gly1663=
ENST00000484087.6:c.1691_1692delinsGA ENSP00000419481.2:p.Gly564=
ENST00000357654.9:c.5129_5130delinsGA MANE Select ENSP00000350283.3:p.Gly1710=
ENST00000471181.7:c.5192_5193delinsGA ENSP00000418960.2:p.Gly1731=
ENST00000644379.1:c.1516_1517delinsGA
ENST00000352993.7:c.1703_1704delinsGA ENSP00000312236.5:p.Gly568=
ENST00000357654.7:c.5129_5130delinsGA ENSP00000350283.3:p.Gly1710=
ENST00000461221.5:c.*4912_*4913delinsGA ENSP00000418548.1:n.*4912_*4913delinsGA
ENST00000468300.5:c.1817_1818delinsGA ENSP00000417148.1:p.Gly606=
ENST00000471181.6:c.5192_5193delinsGA ENSP00000418960.2:p.Gly1731=
ENST00000478531.5:c.1817_1818delinsGA ENSP00000420412.1:p.Gly606=
ENST00000484087.5:c.1442_1443delinsGA ENSP00000419481.1:p.Gly481=
ENST00000491747.6:c.1817_1818delinsGA ENSP00000420705.2:p.Gly606=
ENST00000493795.5:c.4988_4989delinsGA ENSP00000418775.1:p.Gly1663=
ENST00000493919.5:c.1679_1680delinsGA ENSP00000418819.1:p.Gly560=
ENST00000586385.5:c.59_60delinsGA ENSP00000465818.1:p.Gly20=
ENST00000591534.5:c.602_603delinsGA ENSP00000467329.1:p.Gly201=
ENST00000591849.5:c.-98-13707_-98-13706delinsGA ENSP00000465347.1:n.-98-13707_-98-13706delinsGA
NM_007294.3:c.5129_5130delinsGA , LRG_292t1:c.5129_5130delinsGA NP_009225.1:p.Gly1710=
NM_007297.3:c.4988_4989delinsGA NP_009228.2:p.Gly1663=
NM_007298.3:c.1817_1818delinsGA NP_009229.2:p.Gly606=
NM_007299.3:c.1817_1818delinsGA NP_009230.2:p.Gly606=
NM_007300.3:c.5192_5193delinsGA NP_009231.2:p.Gly1731=
NR_027676.1:n.5265_5266delinsGA
NM_007294.4:c.5129_5130delinsGA MANE Select NP_009225.1:p.Gly1710=
NM_007297.4:c.4988_4989delinsGA NP_009228.2:p.Gly1663=
NM_007299.4:c.1817_1818delinsGA NP_009230.2:p.Gly606=
NM_007300.4:c.5192_5193delinsGA NP_009231.2:p.Gly1731=
NR_027676.2:n.5306_5307delinsGA