Canonical Allele Identifier: CA16610722
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 411148
ClinVar RCV Id: RCV000456554
dbSNP Id: rs1060503171

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425728_219425732del , CM000664.2:g.219425728_219425732del GRCh38
NC_000002.11:g.220290450_220290454del , CM000664.1:g.220290450_220290454del GRCh37
NC_000002.10:g.219998694_219998698del NCBI36
NG_008043.1:g.12352_12356del , LRG_380:g.12352_12356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.828_832del
ENST00000683013.1:n.742_746del
ENST00000373960.4:c.1354_1358del MANE Select ENSP00000363071.3:p.Glu452ThrfsTer8
ENST00000373960.3:c.1354_1358del ENSP00000363071.3:p.Glu452ThrfsTer8
ENST00000483395.1:n.209_213del
NM_001927.3:c.1354_1358del , LRG_380t1:c.1354_1358del NP_001918.3:p.Glu452ThrfsTer8
NM_001927.4:c.1354_1358del MANE Select NP_001918.3:p.Glu452ThrfsTer8
NM_001382708.1:c.1351_1355del NP_001369637.1:p.Glu451ThrfsTer8
NM_001382709.1:c.922_926del NP_001369638.1:p.Glu308ThrfsTer8
NM_001382710.1:c.1285_1289del NP_001369639.1:p.Glu429ThrfsTer8
NM_001382711.1:c.1333_1337del NP_001369640.1:p.Glu445ThrfsTer8
NM_001382712.1:c.1354_1358del NP_001369641.1:p.Glu452ThrfsTer20
NM_001382713.1:c.1084_1088del NP_001369642.1:p.Glu362ThrfsTer8