Canonical Allele Identifier: CA10589774
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266345
ClinVar RCV Id: RCV000257826
dbSNP Id: rs886040106

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092313_43092314del , CM000679.2:g.43092313_43092314del GRCh38
NC_000017.10:g.41244330_41244331del , CM000679.1:g.41244330_41244331del GRCh37
NC_000017.9:g.38497856_38497857del NCBI36
NG_005905.2:g.125670_125671del , LRG_292:g.125670_125671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3281_3282del
ENST00000461574.2:c.3217_3218del ENSP00000417241.2:p.Gly1073Ter
ENST00000470026.6:c.3217_3218del ENSP00000419274.2:p.Gly1073Ter
ENST00000473961.6:c.3091_3092del ENSP00000420201.2:p.Gly1031Ter
ENST00000476777.6:c.3214_3215del ENSP00000417554.2:p.Gly1072Ter
ENST00000477152.6:c.3139_3140del ENSP00000419988.2:p.Gly1047Ter
ENST00000478531.6:c.785-1282_785-1281del ENSP00000420412.2:n.785-1282_785-1281del
ENST00000489037.2:c.3139_3140del ENSP00000420781.2:p.Gly1047Ter
ENST00000493919.6:c.647-1282_647-1281del ENSP00000418819.2:n.647-1282_647-1281del
ENST00000494123.6:c.3217_3218del ENSP00000419103.2:p.Gly1073Ter
ENST00000497488.2:c.2329_2330del ENSP00000418986.2:p.Gly777Ter
ENST00000618469.2:c.3217_3218del ENSP00000478114.2:p.Gly1073Ter
ENST00000634433.2:c.3094_3095del ENSP00000489431.2:p.Gly1032Ter
ENST00000644379.2:c.3217_3218del ENSP00000496570.2:p.Gly1073Ter
ENST00000644555.2:c.647-1282_647-1281del ENSP00000494614.2:n.647-1282_647-1281del
ENST00000652672.2:c.3076_3077del ENSP00000498906.2:p.Gly1026Ter
ENST00000484087.6:c.665-1282_665-1281del ENSP00000419481.2:n.665-1282_665-1281del
ENST00000700182.1:c.707-1282_707-1281del ENSP00000514849.1:n.707-1282_707-1281del
ENST00000357654.9:c.3217_3218del MANE Select ENSP00000350283.3:p.Gly1073Ter
ENST00000471181.7:c.3217_3218del ENSP00000418960.2:p.Gly1073Ter
ENST00000352993.7:c.671-1282_671-1281del ENSP00000312236.5:n.671-1282_671-1281del
ENST00000354071.7:c.3217_3218del ENSP00000326002.7:p.Gly1073Ter
ENST00000357654.7:c.3217_3218del ENSP00000350283.3:p.Gly1073Ter
ENST00000461221.5:c.*3000_*3001del ENSP00000418548.1:n.*3000_*3001del
ENST00000468300.5:c.788-1282_788-1281del ENSP00000417148.1:n.788-1282_788-1281del
ENST00000471181.6:c.3217_3218del ENSP00000418960.2:p.Gly1073Ter
ENST00000478531.5:c.785-1282_785-1281del ENSP00000420412.1:n.785-1282_785-1281del
ENST00000484087.5:c.410-1282_410-1281del ENSP00000419481.1:n.410-1282_410-1281del
ENST00000487825.5:c.413-1282_413-1281del ENSP00000418212.1:n.413-1282_413-1281del
ENST00000491747.6:c.788-1282_788-1281del ENSP00000420705.2:n.788-1282_788-1281del
ENST00000493795.5:c.3076_3077del ENSP00000418775.1:p.Gly1026Ter
ENST00000493919.5:c.647-1282_647-1281del ENSP00000418819.1:n.647-1282_647-1281del
ENST00000586385.5:c.5-28363_5-28362del ENSP00000465818.1:n.5-28363_5-28362del
ENST00000591534.5:c.-43-17793_-43-17792del ENSP00000467329.1:n.-43-17793_-43-17792del
ENST00000591849.5:c.-99+32957_-99+32958del ENSP00000465347.1:n.-99+32957_-99+32958del
NM_007294.3:c.3217_3218del , LRG_292t1:c.3217_3218del NP_009225.1:p.Gly1073Ter
NM_007297.3:c.3076_3077del NP_009228.2:p.Gly1026Ter
NM_007298.3:c.788-1282_788-1281del NP_009229.2:n.788-1282_788-1281del
NM_007299.3:c.788-1282_788-1281del NP_009230.2:n.788-1282_788-1281del
NM_007300.3:c.3217_3218del NP_009231.2:p.Gly1073Ter
NR_027676.1:n.3353_3354del
NM_007294.4:c.3217_3218del MANE Select NP_009225.1:p.Gly1073Ter
NM_007297.4:c.3076_3077del NP_009228.2:p.Gly1026Ter
NM_007299.4:c.788-1282_788-1281del NP_009230.2:n.788-1282_788-1281del
NM_007300.4:c.3217_3218del NP_009231.2:p.Gly1073Ter
NR_027676.2:n.3394_3395del