Canonical Allele Identifier: CA2963270460
Community Standard Title: NM_007294.4(BRCA1):c.5134_5136del (p.Trp1712del)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063890_43063892del , CM000679.2:g.43063890_43063892del GRCh38
NC_000017.10:g.41215907_41215909del , CM000679.1:g.41215907_41215909del GRCh37
NC_000017.9:g.38469433_38469435del NCBI36
NG_005905.2:g.154092_154094del , LRG_292:g.154092_154094del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5134_5136del MANE Select NP_009225.1:p.Trp1712del
ENST00000357654.9:c.5134_5136del MANE Select ENSP00000350283.3:p.Trp1712del
NM_007294.3:c.5134_5136del , LRG_292t1:c.5134_5136del NP_009225.1:p.Trp1712del
NM_007297.3:c.4993_4995del NP_009228.2:p.Trp1665del
NM_007297.4:c.4993_4995del NP_009228.2:p.Trp1665del
NM_007298.3:c.1822_1824del NP_009229.2:p.Trp608del
NM_007299.3:c.1822_1824del NP_009230.2:p.Trp608del
NM_007299.4:c.1822_1824del NP_009230.2:p.Trp608del
NM_007300.3:c.5197_5199del NP_009231.2:p.Trp1733del
NM_007300.4:c.5197_5199del NP_009231.2:p.Trp1733del
NR_027676.1:n.5270_5272del
NR_027676.2:n.5311_5313del
ENST00000352993.7:c.1708_1710del ENSP00000312236.5:p.Trp570del
ENST00000357654.7:c.5134_5136del ENSP00000350283.3:p.Trp1712del
ENST00000461221.5:c.*4917_*4919del ENSP00000418548.1:n.*4917_*4919del
ENST00000461574.2:c.5131_5133del ENSP00000417241.2:p.Trp1711del
ENST00000468300.5:c.1822_1824del ENSP00000417148.1:p.Trp608del
ENST00000470026.6:c.5134_5136del ENSP00000419274.2:p.Trp1712del
ENST00000471181.6:c.5197_5199del ENSP00000418960.2:p.Trp1733del
ENST00000471181.7:c.5197_5199del ENSP00000418960.2:p.Trp1733del
ENST00000473961.6:c.5008_5010del ENSP00000420201.2:p.Trp1670del
ENST00000476777.6:c.5128_5130del ENSP00000417554.2:p.Trp1710del
ENST00000477152.6:c.5056_5058del ENSP00000419988.2:p.Trp1686del
ENST00000478531.5:c.1822_1824del ENSP00000420412.1:p.Trp608del
ENST00000478531.6:c.1822_1824del ENSP00000420412.2:p.Trp608del
ENST00000484087.5:c.1447_1449del ENSP00000419481.1:p.Trp483del
ENST00000484087.6:c.1696_1698del ENSP00000419481.2:p.Trp566del
ENST00000489037.2:c.5056_5058del ENSP00000420781.2:p.Trp1686del
ENST00000491747.6:c.1822_1824del ENSP00000420705.2:p.Trp608del
ENST00000493795.5:c.4993_4995del ENSP00000418775.1:p.Trp1665del
ENST00000493919.5:c.1684_1686del ENSP00000418819.1:p.Trp562del
ENST00000493919.6:c.1684_1686del ENSP00000418819.2:p.Trp562del
ENST00000494123.6:c.5134_5136del ENSP00000419103.2:p.Trp1712del
ENST00000497488.2:c.4246_4248del ENSP00000418986.2:p.Trp1416del
ENST00000586385.5:c.64_66del ENSP00000465818.1:p.Trp22del
ENST00000591534.5:c.607_609del ENSP00000467329.1:p.Trp203del
ENST00000591849.5:c.-98-13702_-98-13700del ENSP00000465347.1:n.-98-13702_-98-13700del
ENST00000618469.2:c.5134_5136del ENSP00000478114.2:p.Trp1712del
ENST00000634433.2:c.5011_5013del ENSP00000489431.2:p.Trp1671del
ENST00000644379.1:c.1521_1523del
ENST00000644379.2:c.5200_5202del ENSP00000496570.2:p.Trp1734del
ENST00000644555.2:c.1684_1686del ENSP00000494614.2:p.Trp562del
ENST00000652672.2:c.4993_4995del ENSP00000498906.2:p.Trp1665del