Canonical Allele Identifier: CA2695197672
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673952
ClinVar RCV Id: RCV003450560
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833338_68833339dup , CM000678.2:g.68833338_68833339dup GRCh38
NC_000016.9:g.68867241_68867242dup , CM000678.1:g.68867241_68867242dup GRCh37
NC_000016.8:g.67424742_67424743dup NCBI36
NG_008021.1:g.101047_101048dup , LRG_301:g.101047_101048dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2488_2489dup MANE Select ENSP00000261769.4:p.Leu831CysfsTer16
ENST00000261769.9:c.2488_2489dup ENSP00000261769.4:p.Leu831CysfsTer16
ENST00000422392.6:c.2305_2306dup ENSP00000414946.2:p.Leu770CysfsTer16
ENST00000562118.1:n.706_707dup
ENST00000562836.5:n.2559_2560dup
ENST00000566510.5:c.*1154_*1155dup ENSP00000458139.1:n.*1154_*1155dup
ENST00000566612.5:c.*728_*729dup ENSP00000454782.1:n.*728_*729dup
ENST00000611625.4:c.2551_2552dup ENSP00000481063.1:p.Leu852CysfsTer16
ENST00000612417.4:c.1854-853_1854-852dup ENSP00000478360.1:n.1854-853_1854-852dup
ENST00000621016.4:c.1866-865_1866-864dup ENSP00000480664.1:n.1866-865_1866-864dup
NM_004360.3:c.2488_2489dup , LRG_301t1:c.2488_2489dup NP_004351.1:p.Leu831CysfsTer16
XM_011523488.1:c.1753_1754dup XP_011521790.1:p.Leu586CysfsTer16
XM_011523489.1:c.1753_1754dup XP_011521791.1:p.Leu586CysfsTer16
NM_001317184.1:c.2305_2306dup NP_001304113.1:p.Leu770CysfsTer16
NM_001317185.1:c.940_941dup NP_001304114.1:p.Leu315CysfsTer16
NM_001317186.1:c.523_524dup NP_001304115.1:p.Leu176CysfsTer16
NM_004360.4:c.2488_2489dup NP_004351.1:p.Leu831CysfsTer16
NM_004360.5:c.2488_2489dup MANE Select NP_004351.1:p.Leu831CysfsTer16
NM_001317184.2:c.2305_2306dup NP_001304113.1:p.Leu770CysfsTer16
NM_001317185.2:c.940_941dup NP_001304114.1:p.Leu315CysfsTer16
NM_001317186.2:c.523_524dup NP_001304115.1:p.Leu176CysfsTer16
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