LDH info

Canonical Allele Identifier: CA645569984
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 619670
ClinVar RCV Id: RCV000759022
dbSNP Id: rs1567471351
COSMIC: COSM19504

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738299_68738413del , CM000678.2:g.68738299_68738413del GRCh38
NC_000016.9:g.68772202_68772316del , CM000678.1:g.68772202_68772316del GRCh37
NC_000016.8:g.67329703_67329817del NCBI36
NG_008021.1:g.6008_6122del , LRG_301:g.6008_6122del

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.51_163+2del , LRG_301t1:c.51_163+2del
NM_001317184.1:c.51_163+2del VV
NM_001317185.1:c.-1565_-1453+2del VV
NM_001317186.1:c.-1769_-1657+2del VV
NM_004360.4:c.51_163+2del VV
NM_004360.5:c.51_163+2del VV MANE Preferred
NM_001317184.2:c.51_163+2del VV
NM_001317185.2:c.-1565_-1453+2del VV
NM_001317186.2:c.-1769_-1657+2del VV
ENST00000261769.9:c.51_163+2del
ENST00000422392.6:c.51_163+2del
ENST00000566510.5:c.51_163+2del
ENST00000566612.5:c.51_163+2del
ENST00000611625.4:c.51_163+2del
ENST00000612417.4:c.51_163+2del
ENST00000621016.4:c.51_163+2del