Canonical Allele Identifier: CA3060571015
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823538_68823542delinsCGGCA , CM000678.2:g.68823538_68823542delinsCGGCA GRCh38
NC_000016.9:g.68857441_68857445delinsCGGCA , CM000678.1:g.68857441_68857445delinsCGGCA GRCh37
NC_000016.8:g.67414942_67414946delinsCGGCA NCBI36
NG_008021.1:g.91247_91251delinsCGGCA , LRG_301:g.91247_91251delinsCGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2076_2080delinsCGGCA MANE Select ENSP00000261769.4:p.Val694Ile
ENST00000261769.9:c.2076_2080delinsCGGCA ENSP00000261769.4:p.Val694Ile
ENST00000422392.6:c.1893_1897delinsCGGCA ENSP00000414946.2:p.Val633Ile
ENST00000562118.1:n.294_298delinsCGGCA
ENST00000562836.5:n.2147_2151delinsCGGCA
ENST00000566510.5:c.*742_*746delinsCGGCA ENSP00000458139.1:n.*742_*746delinsCGGCA
ENST00000566612.5:c.*316_*320delinsCGGCA ENSP00000454782.1:n.*316_*320delinsCGGCA
ENST00000611625.4:c.2139_2143delinsCGGCA ENSP00000481063.1:p.Val715Ile
ENST00000612417.4:c.1830+1419_1830+1423delinsCGGCA ENSP00000478360.1:n.1830+1419_1830+1423delinsCGGCA
ENST00000621016.4:c.1865+1384_1865+1388delinsCGGCA ENSP00000480664.1:n.1865+1384_1865+1388delinsCGGCA
NM_004360.3:c.2076_2080delinsCGGCA , LRG_301t1:c.2076_2080delinsCGGCA NP_004351.1:p.Val694Ile
XM_011523488.1:c.1341_1345delinsCGGCA XP_011521790.1:p.Val449Ile
XM_011523489.1:c.1341_1345delinsCGGCA XP_011521791.1:p.Val449Ile
NM_001317184.1:c.1893_1897delinsCGGCA NP_001304113.1:p.Val633Ile
NM_001317185.1:c.528_532delinsCGGCA NP_001304114.1:p.Val178Ile
NM_001317186.1:c.111_115delinsCGGCA NP_001304115.1:p.Val39Ile
NM_004360.4:c.2076_2080delinsCGGCA NP_004351.1:p.Val694Ile
NM_004360.5:c.2076_2080delinsCGGCA MANE Select NP_004351.1:p.Val694Ile
NM_001317184.2:c.1893_1897delinsCGGCA NP_001304113.1:p.Val633Ile
NM_001317185.2:c.528_532delinsCGGCA NP_001304114.1:p.Val178Ile
NM_001317186.2:c.111_115delinsCGGCA NP_001304115.1:p.Val39Ile