Canonical Allele Identifier: CA273725
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 180206
ClinVar RCV Id: RCV002265630
dbSNP Id: rs730880289
MyVariant Identifiers: chr2:g.220284880_220284881del (hg19) chr2:g.219420158_219420159del (hg38)
PubMed: PMID:9736733 PMID:20301672
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420159_219420160del , CM000664.2:g.219420159_219420160del GRCh38
NC_000002.11:g.220284881_220284882del , CM000664.1:g.220284881_220284882del GRCh37
NC_000002.10:g.219993125_219993126del NCBI36
NG_008043.1:g.6783_6784del , LRG_380:g.6783_6784del

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.113+4_113+5del
ENST00000373960.4:c.639+4_639+5del MANE Select ENSP00000363071.3:n.639+4_639+5del
ENST00000373960.3:c.639+4_639+5del ENSP00000363071.3:n.639+4_639+5del
ENST00000477226.5:n.111+4_111+5del
ENST00000492726.1:n.34+4_34+5del
NM_001927.3:c.639+4_639+5del , LRG_380t1:c.639+4_639+5del NP_001918.3:n.639+4_639+5del
NM_001927.4:c.639+4_639+5del MANE Select NP_001918.3:n.639+4_639+5del
NM_001382708.1:c.636+7_636+8del NP_001369637.1:n.636+7_636+8del
NM_001382709.1:c.639+4_639+5del NP_001369638.1:n.639+4_639+5del
NM_001382710.1:c.639+4_639+5del NP_001369639.1:n.639+4_639+5del
NM_001382711.1:c.639+4_639+5del NP_001369640.1:n.639+4_639+5del
NM_001382712.1:c.639+4_639+5del NP_001369641.1:n.639+4_639+5del
NM_001382713.1:c.496-366_496-365del NP_001369642.1:n.496-366_496-365del
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