Canonical Allele Identifier: CA1139770768
Community Standard Title: NM_007294.4(BRCA1):c.5140_5141del (p.Val1714Ter)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063885_43063886del , CM000679.2:g.43063885_43063886del GRCh38
NC_000017.10:g.41215902_41215903del , CM000679.1:g.41215902_41215903del GRCh37
NC_000017.9:g.38469428_38469429del NCBI36
NG_005905.2:g.154098_154099del , LRG_292:g.154098_154099del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5140_5141del MANE Select NP_009225.1:p.Val1714Ter
ENST00000357654.9:c.5140_5141del MANE Select ENSP00000350283.3:p.Val1714Ter
NM_007294.3:c.5140_5141del , LRG_292t1:c.5140_5141del NP_009225.1:p.Val1714Ter
NM_007297.3:c.4999_5000del NP_009228.2:p.Val1667Ter
NM_007297.4:c.4999_5000del NP_009228.2:p.Val1667Ter
NM_007298.3:c.1828_1829del NP_009229.2:p.Val610Ter
NM_007299.3:c.1828_1829del NP_009230.2:p.Val610Ter
NM_007299.4:c.1828_1829del NP_009230.2:p.Val610Ter
NM_007300.3:c.5203_5204del NP_009231.2:p.Val1735Ter
NM_007300.4:c.5203_5204del NP_009231.2:p.Val1735Ter
NR_027676.1:n.5276_5277del
NR_027676.2:n.5317_5318del
ENST00000352993.7:c.1714_1715del ENSP00000312236.5:p.Val572Ter
ENST00000357654.7:c.5140_5141del ENSP00000350283.3:p.Val1714Ter
ENST00000461221.5:c.*4923_*4924del ENSP00000418548.1:n.*4923_*4924del
ENST00000461574.2:c.5137_5138del ENSP00000417241.2:p.Val1713Ter
ENST00000468300.5:c.1828_1829del ENSP00000417148.1:p.Val610Ter
ENST00000470026.6:c.5140_5141del ENSP00000419274.2:p.Val1714Ter
ENST00000471181.6:c.5203_5204del ENSP00000418960.2:p.Val1735Ter
ENST00000471181.7:c.5203_5204del ENSP00000418960.2:p.Val1735Ter
ENST00000473961.6:c.5014_5015del ENSP00000420201.2:p.Val1672Ter
ENST00000476777.6:c.5134_5135del ENSP00000417554.2:p.Val1712Ter
ENST00000477152.6:c.5062_5063del ENSP00000419988.2:p.Val1688Ter
ENST00000478531.5:c.1828_1829del ENSP00000420412.1:p.Val610Ter
ENST00000478531.6:c.1828_1829del ENSP00000420412.2:p.Val610Ter
ENST00000484087.5:c.1453_1454del ENSP00000419481.1:p.Val485Ter
ENST00000484087.6:c.1702_1703del ENSP00000419481.2:p.Val568Ter
ENST00000489037.2:c.5062_5063del ENSP00000420781.2:p.Val1688Ter
ENST00000491747.6:c.1828_1829del ENSP00000420705.2:p.Val610Ter
ENST00000493795.5:c.4999_5000del ENSP00000418775.1:p.Val1667Ter
ENST00000493919.5:c.1690_1691del ENSP00000418819.1:p.Val564Ter
ENST00000493919.6:c.1690_1691del ENSP00000418819.2:p.Val564Ter
ENST00000494123.6:c.5140_5141del ENSP00000419103.2:p.Val1714Ter
ENST00000497488.2:c.4252_4253del ENSP00000418986.2:p.Val1418Ter
ENST00000586385.5:c.70_71del ENSP00000465818.1:p.Val24Ter
ENST00000591534.5:c.613_614del ENSP00000467329.1:p.Val205Ter
ENST00000591849.5:c.-98-13696_-98-13695del ENSP00000465347.1:n.-98-13696_-98-13695del
ENST00000618469.2:c.5140_5141del ENSP00000478114.2:p.Val1714Ter
ENST00000634433.2:c.5017_5018del ENSP00000489431.2:p.Val1673Ter
ENST00000644379.1:c.1527_1528del
ENST00000644379.2:c.5206_5207del ENSP00000496570.2:p.Val1736Ter
ENST00000644555.2:c.1690_1691del ENSP00000494614.2:p.Val564Ter
ENST00000652672.2:c.4999_5000del ENSP00000498906.2:p.Val1667Ter