Canonical Allele Identifier: CA169722
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142905
ClinVar RCV Id: RCV000132373 RCV000705595 RCV003993823
dbSNP Id: rs587782810
MyVariant Identifiers: chr16:g.68863705_68863708del (hg19) chr16:g.68829802_68829805del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829802_68829805del , CM000678.2:g.68829802_68829805del GRCh38
NC_000016.9:g.68863705_68863708del , CM000678.1:g.68863705_68863708del GRCh37
NC_000016.8:g.67421206_67421209del NCBI36
NG_008021.1:g.97511_97514del , LRG_301:g.97511_97514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2439+5_2439+8del
ENST00000261769.9:c.2439+5_2439+8del
ENST00000422392.6:c.2256+5_2256+8del
ENST00000562118.1:n.657+5_657+8del
ENST00000562836.5:n.2510+5_2510+8del
ENST00000566510.5:c.*1105+5_*1105+8del
ENST00000566612.5:c.*679+5_*679+8del
ENST00000611625.4:c.2502+5_2502+8del
ENST00000612417.4:c.1853+3248_1853+3251del ENSP00000478360.1:n.1853+3248_1853+3251del
ENST00000621016.4:c.1866-4401_1866-4398del ENSP00000480664.1:n.1866-4401_1866-4398del
NM_004360.3:c.2439+5_2439+8del , LRG_301t1:c.2439+5_2439+8del
XM_011523488.1:c.1704+5_1704+8del
XM_011523489.1:c.1704+5_1704+8del
NM_001317184.1:c.2256+5_2256+8del
NM_001317185.1:c.891+5_891+8del
NM_001317186.1:c.474+5_474+8del
NM_004360.4:c.2439+5_2439+8del
NM_004360.5:c.2439+5_2439+8del
NM_001317184.2:c.2256+5_2256+8del
NM_001317185.2:c.891+5_891+8del
NM_001317186.2:c.474+5_474+8del
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