Canonical Allele Identifier: CA1329213244
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425989A= , CM000664.2:g.219425989A= GRCh38
NC_000002.11:g.220290711A= , CM000664.1:g.220290711A= GRCh37
NC_000002.10:g.219998955A= NCBI36
NG_008043.1:g.12613A= , LRG_380:g.12613A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.886A=
ENST00000683013.1:n.800A=
ENST00000373960.4:c.1412A= MANE Select ENSP00000363071.3:p.Ter471=
ENST00000373960.3:c.1412A= ENSP00000363071.3:p.Ter471=
ENST00000483395.1:n.267A=
NM_001927.3:c.1412A= , LRG_380t1:c.1412A= NP_001918.3:p.Ter471=
NM_001927.4:c.1412A= MANE Select NP_001918.3:p.Ter471=
NM_001382708.1:c.1409A= NP_001369637.1:p.Ter470=
NM_001382709.1:c.980A= NP_001369638.1:p.Ter327=
NM_001382710.1:c.1343A= NP_001369639.1:p.Ter448=
NM_001382711.1:c.1391A= NP_001369640.1:p.Ter464=
NM_001382712.1:c.1371+244A= NP_001369641.1:n.1371+244A=
NM_001382713.1:c.1142A= NP_001369642.1:p.Ter381=