Canonical Allele Identifier: CA1139664744
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921695
ClinVar RCV Id: RCV001181251
dbSNP Id: rs1961433417

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829771_68829772delinsAG , CM000678.2:g.68829771_68829772delinsAG GRCh38
NC_000016.9:g.68863674_68863675delinsAG , CM000678.1:g.68863674_68863675delinsAG GRCh37
NC_000016.8:g.67421175_67421176delinsAG NCBI36
NG_008021.1:g.97480_97481delinsAG , LRG_301:g.97480_97481delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.2413_2414delinsAG MANE Select ENSP00000261769.4:p.Asp805Ser
ENST00000261769.9:c.2413_2414delinsAG ENSP00000261769.4:p.Asp805Ser
ENST00000422392.6:c.2230_2231delinsAG ENSP00000414946.2:p.Asp744Ser
ENST00000562118.1:n.631_632delinsAG
ENST00000562836.5:n.2484_2485delinsAG
ENST00000566510.5:c.*1079_*1080delinsAG ENSP00000458139.1:n.*1079_*1080delinsAG
ENST00000566612.5:c.*653_*654delinsAG ENSP00000454782.1:n.*653_*654delinsAG
ENST00000611625.4:c.2476_2477delinsAG ENSP00000481063.1:p.Asp826Ser
ENST00000612417.4:c.1853+3217_1853+3218delinsAG ENSP00000478360.1:n.1853+3217_1853+3218delinsAG
ENST00000621016.4:c.1866-4432_1866-4431delinsAG ENSP00000480664.1:n.1866-4432_1866-4431delinsAG
NM_004360.3:c.2413_2414delinsAG , LRG_301t1:c.2413_2414delinsAG NP_004351.1:p.Asp805Ser
XM_011523488.1:c.1678_1679delinsAG XP_011521790.1:p.Asp560Ser
XM_011523489.1:c.1678_1679delinsAG XP_011521791.1:p.Asp560Ser
NM_001317184.1:c.2230_2231delinsAG NP_001304113.1:p.Asp744Ser
NM_001317185.1:c.865_866delinsAG NP_001304114.1:p.Asp289Ser
NM_001317186.1:c.448_449delinsAG NP_001304115.1:p.Asp150Ser
NM_004360.4:c.2413_2414delinsAG NP_004351.1:p.Asp805Ser
NM_004360.5:c.2413_2414delinsAG MANE Select NP_004351.1:p.Asp805Ser
NM_001317184.2:c.2230_2231delinsAG NP_001304113.1:p.Asp744Ser
NM_001317185.2:c.865_866delinsAG NP_001304114.1:p.Asp289Ser
NM_001317186.2:c.448_449delinsAG NP_001304115.1:p.Asp150Ser