Canonical Allele Identifier: CA217075
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 16823
dbSNP Id: rs60538473

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418983_219419003del , CM000664.2:g.219418983_219419003del GRCh38
NC_000002.11:g.220283705_220283725del , CM000664.1:g.220283705_220283725del GRCh37
NC_000002.10:g.219991949_219991969del NCBI36
NG_008043.1:g.5607_5627del , LRG_380:g.5607_5627del

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.521_541del MANE Select ENSP00000363071.3:p.Ala174_Arg180del
ENST00000373960.3:c.521_541del ENSP00000363071.3:p.Ala174_Arg180del
NM_001927.3:c.521_541del , LRG_380t1:c.521_541del NP_001918.3:p.Ala174_Arg180del
NM_001927.4:c.521_541del MANE Select NP_001918.3:p.Ala174_Arg180del
NM_001382708.1:c.521_541del NP_001369637.1:p.Ala174_Arg180del
NM_001382709.1:c.521_541del NP_001369638.1:p.Ala174_Arg180del
NM_001382710.1:c.521_541del NP_001369639.1:p.Ala174_Arg180del
NM_001382711.1:c.521_541del NP_001369640.1:p.Ala174_Arg180del
NM_001382712.1:c.521_541del NP_001369641.1:p.Ala174_Arg180del
NM_001382713.1:c.495+26_495+46del NP_001369642.1:n.495+26_495+46del