Canonical Allele Identifier: CA1329211361
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421569C= , CM000664.2:g.219421569C= GRCh38
NC_000002.11:g.220286291C= , CM000664.1:g.220286291C= GRCh37
NC_000002.10:g.219994535C= NCBI36
NG_008043.1:g.8193C= , LRG_380:g.8193C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.718+9C=
ENST00000683013.1:n.632+9C=
ENST00000373960.4:c.1244+9C= MANE Select ENSP00000363071.3:n.1244+9C=
ENST00000373960.3:c.1244+9C= ENSP00000363071.3:n.1244+9C=
ENST00000477226.5:n.716+9C=
ENST00000492726.1:n.639+9C=
NM_001927.3:c.1244+9C= , LRG_380t1:c.1244+9C= NP_001918.3:n.1244+9C=
NM_001927.4:c.1244+9C= MANE Select NP_001918.3:n.1244+9C=
NM_001382708.1:c.1241+9C= NP_001369637.1:n.1241+9C=
NM_001382709.1:c.812+9C= NP_001369638.1:n.812+9C=
NM_001382710.1:c.1175+9C= NP_001369639.1:n.1175+9C=
NM_001382711.1:c.1223+9C= NP_001369640.1:n.1223+9C=
NM_001382712.1:c.1244+9C= NP_001369641.1:n.1244+9C=
NM_001382713.1:c.974+9C= NP_001369642.1:n.974+9C=