Canonical Allele Identifier: CA2582342529
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583636
ClinVar RCV Id: RCV003334558
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829709_68829710del , CM000678.2:g.68829709_68829710del GRCh38
NC_000016.9:g.68863612_68863613del , CM000678.1:g.68863612_68863613del GRCh37
NC_000016.8:g.67421113_67421114del NCBI36
NG_008021.1:g.97418_97419del , LRG_301:g.97418_97419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2351_2352del MANE Select ENSP00000261769.4:p.Arg784GlnfsTer22
ENST00000261769.9:c.2351_2352del ENSP00000261769.4:p.Arg784GlnfsTer22
ENST00000422392.6:c.2168_2169del ENSP00000414946.2:p.Arg723GlnfsTer22
ENST00000562118.1:n.569_570del
ENST00000562836.5:n.2422_2423del
ENST00000566510.5:c.*1017_*1018del ENSP00000458139.1:n.*1017_*1018del
ENST00000566612.5:c.*591_*592del ENSP00000454782.1:n.*591_*592del
ENST00000611625.4:c.2414_2415del ENSP00000481063.1:p.Arg805GlnfsTer22
ENST00000612417.4:c.1853+3155_1853+3156del ENSP00000478360.1:n.1853+3155_1853+3156del
ENST00000621016.4:c.1866-4494_1866-4493del ENSP00000480664.1:n.1866-4494_1866-4493del
NM_004360.3:c.2351_2352del , LRG_301t1:c.2351_2352del NP_004351.1:p.Arg784GlnfsTer22
XM_011523488.1:c.1616_1617del XP_011521790.1:p.Arg539GlnfsTer22
XM_011523489.1:c.1616_1617del XP_011521791.1:p.Arg539GlnfsTer22
NM_001317184.1:c.2168_2169del NP_001304113.1:p.Arg723GlnfsTer22
NM_001317185.1:c.803_804del NP_001304114.1:p.Arg268GlnfsTer22
NM_001317186.1:c.386_387del NP_001304115.1:p.Arg129GlnfsTer22
NM_004360.4:c.2351_2352del NP_004351.1:p.Arg784GlnfsTer22
NM_004360.5:c.2351_2352del MANE Select NP_004351.1:p.Arg784GlnfsTer22
NM_001317184.2:c.2168_2169del NP_001304113.1:p.Arg723GlnfsTer22
NM_001317185.2:c.803_804del NP_001304114.1:p.Arg268GlnfsTer22
NM_001317186.2:c.386_387del NP_001304115.1:p.Arg129GlnfsTer22
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