Canonical Allele Identifier: CA16620429
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419901
dbSNP Id: rs1064794177

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092391_43092394del , CM000679.2:g.43092391_43092394del GRCh38
NC_000017.10:g.41244408_41244411del , CM000679.1:g.41244408_41244411del GRCh37
NC_000017.9:g.38497934_38497937del NCBI36
NG_005905.2:g.125591_125594del , LRG_292:g.125591_125594del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3202_3205del
ENST00000461574.2:c.3138_3141del ENSP00000417241.2:p.Gly1048ProfsTer13
ENST00000470026.6:c.3138_3141del ENSP00000419274.2:p.Gly1048ProfsTer13
ENST00000473961.6:c.3012_3015del ENSP00000420201.2:p.Gly1006ProfsTer13
ENST00000476777.6:c.3135_3138del ENSP00000417554.2:p.Gly1047ProfsTer13
ENST00000477152.6:c.3060_3063del ENSP00000419988.2:p.Gly1022ProfsTer13
ENST00000478531.6:c.785-1361_785-1358del ENSP00000420412.2:n.785-1361_785-1358del
ENST00000489037.2:c.3060_3063del ENSP00000420781.2:p.Gly1022ProfsTer13
ENST00000493919.6:c.647-1361_647-1358del ENSP00000418819.2:n.647-1361_647-1358del
ENST00000494123.6:c.3138_3141del ENSP00000419103.2:p.Gly1048ProfsTer13
ENST00000497488.2:c.2250_2253del ENSP00000418986.2:p.Gly752ProfsTer13
ENST00000618469.2:c.3138_3141del ENSP00000478114.2:p.Gly1048ProfsTer13
ENST00000634433.2:c.3015_3018del ENSP00000489431.2:p.Gly1007ProfsTer13
ENST00000644379.2:c.3138_3141del ENSP00000496570.2:p.Gly1048ProfsTer13
ENST00000644555.2:c.647-1361_647-1358del ENSP00000494614.2:n.647-1361_647-1358del
ENST00000652672.2:c.2997_3000del ENSP00000498906.2:p.Gly1001ProfsTer13
ENST00000484087.6:c.665-1361_665-1358del ENSP00000419481.2:n.665-1361_665-1358del
ENST00000700182.1:c.707-1361_707-1358del ENSP00000514849.1:n.707-1361_707-1358del
ENST00000357654.9:c.3138_3141del MANE Select ENSP00000350283.3:p.Gly1048ProfsTer13
ENST00000471181.7:c.3138_3141del ENSP00000418960.2:p.Gly1048ProfsTer13
ENST00000352993.7:c.671-1361_671-1358del ENSP00000312236.5:n.671-1361_671-1358del
ENST00000354071.7:c.3138_3141del ENSP00000326002.7:p.Gly1048ProfsTer13
ENST00000357654.7:c.3138_3141del ENSP00000350283.3:p.Gly1048ProfsTer13
ENST00000461221.5:c.*2921_*2924del ENSP00000418548.1:n.*2921_*2924del
ENST00000468300.5:c.788-1361_788-1358del ENSP00000417148.1:n.788-1361_788-1358del
ENST00000471181.6:c.3138_3141del ENSP00000418960.2:p.Gly1048ProfsTer13
ENST00000478531.5:c.785-1361_785-1358del ENSP00000420412.1:n.785-1361_785-1358del
ENST00000484087.5:c.410-1361_410-1358del ENSP00000419481.1:n.410-1361_410-1358del
ENST00000487825.5:c.413-1361_413-1358del ENSP00000418212.1:n.413-1361_413-1358del
ENST00000491747.6:c.788-1361_788-1358del ENSP00000420705.2:n.788-1361_788-1358del
ENST00000493795.5:c.2997_3000del ENSP00000418775.1:p.Gly1001ProfsTer13
ENST00000493919.5:c.647-1361_647-1358del ENSP00000418819.1:n.647-1361_647-1358del
ENST00000586385.5:c.5-28442_5-28439del ENSP00000465818.1:n.5-28442_5-28439del
ENST00000591534.5:c.-43-17872_-43-17869del ENSP00000467329.1:n.-43-17872_-43-17869de...
ENST00000591849.5:c.-99+32878_-99+32881del ENSP00000465347.1:n.-99+32878_-99+32881de...
NM_007294.3:c.3138_3141del , LRG_292t1:c.3138_3141del NP_009225.1:p.Gly1048ProfsTer13
NM_007297.3:c.2997_3000del NP_009228.2:p.Gly1001ProfsTer13
NM_007298.3:c.788-1361_788-1358del NP_009229.2:n.788-1361_788-1358del
NM_007299.3:c.788-1361_788-1358del NP_009230.2:n.788-1361_788-1358del
NM_007300.3:c.3138_3141del NP_009231.2:p.Gly1048ProfsTer13
NR_027676.1:n.3274_3277del
NM_007294.4:c.3138_3141del MANE Select NP_009225.1:p.Gly1048ProfsTer13
NM_007297.4:c.2997_3000del NP_009228.2:p.Gly1001ProfsTer13
NM_007299.4:c.788-1361_788-1358del NP_009230.2:n.788-1361_788-1358del
NM_007300.4:c.3138_3141del NP_009231.2:p.Gly1048ProfsTer13
NR_027676.2:n.3315_3318del