Canonical Allele Identifier: CA913188737
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919507
ClinVar RCV Id: RCV001177743 RCV001760128
dbSNP Id: rs1961540099
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833398_68833399delinsCT , CM000678.2:g.68833398_68833399delinsCT GRCh38
NC_000016.9:g.68867301_68867302delinsCT , CM000678.1:g.68867301_68867302delinsCT GRCh37
NC_000016.8:g.67424802_67424803delinsCT NCBI36
NG_008021.1:g.101107_101108delinsCT , LRG_301:g.101107_101108delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2548_2549delinsCT MANE Select ENSP00000261769.4:p.Ser850Leu
ENST00000261769.9:c.2548_2549delinsCT ENSP00000261769.4:p.Ser850Leu
ENST00000422392.6:c.2365_2366delinsCT ENSP00000414946.2:p.Ser789Leu
ENST00000562118.1:n.766_767delinsCT
ENST00000562836.5:n.2619_2620delinsCT
ENST00000566510.5:c.*1214_*1215delinsCT ENSP00000458139.1:n.*1214_*1215delinsCT
ENST00000566612.5:c.*788_*789delinsCT ENSP00000454782.1:n.*788_*789delinsCT
ENST00000611625.4:c.2611_2612delinsCT ENSP00000481063.1:p.Ser871Leu
ENST00000612417.4:c.1854-793_1854-792delinsCT ENSP00000478360.1:n.1854-793_1854-792delinsCT
ENST00000621016.4:c.1866-805_1866-804delinsCT ENSP00000480664.1:n.1866-805_1866-804delinsCT
NM_004360.3:c.2548_2549delinsCT , LRG_301t1:c.2548_2549delinsCT NP_004351.1:p.Ser850Leu
XM_011523488.1:c.1813_1814delinsCT XP_011521790.1:p.Ser605Leu
XM_011523489.1:c.1813_1814delinsCT XP_011521791.1:p.Ser605Leu
NM_001317184.1:c.2365_2366delinsCT NP_001304113.1:p.Ser789Leu
NM_001317185.1:c.1000_1001delinsCT NP_001304114.1:p.Ser334Leu
NM_001317186.1:c.583_584delinsCT NP_001304115.1:p.Ser195Leu
NM_004360.4:c.2548_2549delinsCT NP_004351.1:p.Ser850Leu
NM_004360.5:c.2548_2549delinsCT MANE Select NP_004351.1:p.Ser850Leu
NM_001317184.2:c.2365_2366delinsCT NP_001304113.1:p.Ser789Leu
NM_001317185.2:c.1000_1001delinsCT NP_001304114.1:p.Ser334Leu
NM_001317186.2:c.583_584delinsCT NP_001304115.1:p.Ser195Leu
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