Canonical Allele Identifier: CA2260782067
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091580_43091584delinsCAAGA , CM000679.2:g.43091580_43091584delinsCAAGA GRCh38
NC_000017.10:g.41243597_41243601delinsCAAGA , CM000679.1:g.41243597_41243601delinsCAAGA GRCh37
NC_000017.9:g.38497123_38497127delinsCAAGA NCBI36
NG_005905.2:g.126400_126404delinsTCTTG , LRG_292:g.126400_126404delinsTCTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.4011_4015delinsTCTTG
ENST00000461574.2:c.3947_3951delinsTCTTG ENSP00000417241.2:p.Phe1316=
ENST00000470026.6:c.3947_3951delinsTCTTG ENSP00000419274.2:p.Phe1316=
ENST00000473961.6:c.3821_3825delinsTCTTG ENSP00000420201.2:p.Phe1274=
ENST00000476777.6:c.3944_3948delinsTCTTG ENSP00000417554.2:p.Phe1315=
ENST00000477152.6:c.3869_3873delinsTCTTG ENSP00000419988.2:p.Phe1290=
ENST00000478531.6:c.785-552_785-548delinsTCTTG ENSP00000420412.2:n.785-552_785-548delins...
ENST00000489037.2:c.3869_3873delinsTCTTG ENSP00000420781.2:p.Phe1290=
ENST00000493919.6:c.647-552_647-548delinsTCTTG ENSP00000418819.2:n.647-552_647-548delins...
ENST00000494123.6:c.3947_3951delinsTCTTG ENSP00000419103.2:p.Phe1316=
ENST00000497488.2:c.3059_3063delinsTCTTG ENSP00000418986.2:p.Phe1020=
ENST00000618469.2:c.3947_3951delinsTCTTG ENSP00000478114.2:p.Phe1316=
ENST00000634433.2:c.3824_3828delinsTCTTG ENSP00000489431.2:p.Phe1275=
ENST00000644379.2:c.3947_3951delinsTCTTG ENSP00000496570.2:p.Phe1316=
ENST00000644555.2:c.647-552_647-548delinsTCTTG ENSP00000494614.2:n.647-552_647-548delins...
ENST00000652672.2:c.3806_3810delinsTCTTG ENSP00000498906.2:p.Phe1269=
ENST00000484087.6:c.665-552_665-548delinsTCTTG ENSP00000419481.2:n.665-552_665-548delins...
ENST00000700182.1:c.707-552_707-548delinsTCTTG ENSP00000514849.1:n.707-552_707-548delins...
ENST00000357654.9:c.3947_3951delinsTCTTG MANE Select ENSP00000350283.3:p.Phe1316=
ENST00000471181.7:c.3947_3951delinsTCTTG ENSP00000418960.2:p.Phe1316=
ENST00000644379.1:c.268_272delinsTCTTG
ENST00000352993.7:c.671-552_671-548delinsTCTTG ENSP00000312236.5:n.671-552_671-548delins...
ENST00000354071.7:c.3947_3951delinsTCTTG ENSP00000326002.7:p.Phe1316=
ENST00000357654.7:c.3947_3951delinsTCTTG ENSP00000350283.3:p.Phe1316=
ENST00000461221.5:c.*3730_*3734delinsTCTTG ENSP00000418548.1:n.*3730_*3734delinsTCTT...
ENST00000461574.1:c.241_245delinsTCTTG
ENST00000468300.5:c.788-552_788-548delinsTCTTG ENSP00000417148.1:n.788-552_788-548delins...
ENST00000471181.6:c.3947_3951delinsTCTTG ENSP00000418960.2:p.Phe1316=
ENST00000478531.5:c.785-552_785-548delinsTCTTG ENSP00000420412.1:n.785-552_785-548delins...
ENST00000484087.5:c.410-552_410-548delinsTCTTG ENSP00000419481.1:n.410-552_410-548delins...
ENST00000487825.5:c.413-552_413-548delinsTCTTG ENSP00000418212.1:n.413-552_413-548delins...
ENST00000491747.6:c.788-552_788-548delinsTCTTG ENSP00000420705.2:n.788-552_788-548delins...
ENST00000493795.5:c.3806_3810delinsTCTTG ENSP00000418775.1:p.Phe1269=
ENST00000493919.5:c.647-552_647-548delinsTCTTG ENSP00000418819.1:n.647-552_647-548delins...
ENST00000586385.5:c.5-27633_5-27629delinsTCTTG ENSP00000465818.1:n.5-27633_5-27629delins...
ENST00000591534.5:c.-43-17063_-43-17059delinsTCTTG ENSP00000467329.1:n.-43-17063_-43-17059de...
ENST00000591849.5:c.-99+33687_-99+33691delinsTCTTG ENSP00000465347.1:n.-99+33687_-99+33691de...
NM_007294.3:c.3947_3951delinsTCTTG , LRG_292t1:c.3947_3951delinsTCTTG NP_009225.1:p.Phe1316=
NM_007297.3:c.3806_3810delinsTCTTG NP_009228.2:p.Phe1269=
NM_007298.3:c.788-552_788-548delinsTCTTG NP_009229.2:n.788-552_788-548delinsTCTTG
NM_007299.3:c.788-552_788-548delinsTCTTG NP_009230.2:n.788-552_788-548delinsTCTTG
NM_007300.3:c.3947_3951delinsTCTTG NP_009231.2:p.Phe1316=
NR_027676.1:n.4083_4087delinsTCTTG
NM_007294.4:c.3947_3951delinsTCTTG MANE Select NP_009225.1:p.Phe1316=
NM_007297.4:c.3806_3810delinsTCTTG NP_009228.2:p.Phe1269=
NM_007299.4:c.788-552_788-548delinsTCTTG NP_009230.2:n.788-552_788-548delinsTCTTG
NM_007300.4:c.3947_3951delinsTCTTG NP_009231.2:p.Phe1316=
NR_027676.2:n.4124_4128delinsTCTTG