Canonical Allele Identifier: CA1329210785
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420358C= , CM000664.2:g.219420358C= GRCh38
NC_000002.11:g.220285080C= , CM000664.1:g.220285080C= GRCh37
NC_000002.10:g.219993324C= NCBI36
NG_008043.1:g.6982C= , LRG_380:g.6982C=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.209+12C=
ENST00000683013.1:n.123+12C=
ENST00000373960.4:c.735+12C= MANE Select ENSP00000363071.3:n.735+12C=
ENST00000373960.3:c.735+12C= ENSP00000363071.3:n.735+12C=
ENST00000477226.5:n.207+12C=
ENST00000492726.1:n.130+12C=
NM_001927.3:c.735+12C= , LRG_380t1:c.735+12C= NP_001918.3:n.735+12C=
NM_001927.4:c.735+12C= MANE Select NP_001918.3:n.735+12C=
NM_001382708.1:c.732+12C= NP_001369637.1:n.732+12C=
NM_001382709.1:c.735+12C= NP_001369638.1:n.735+12C=
NM_001382710.1:c.735+12C= NP_001369639.1:n.735+12C=
NM_001382711.1:c.735+12C= NP_001369640.1:n.735+12C=
NM_001382712.1:c.735+12C= NP_001369641.1:n.735+12C=
NM_001382713.1:c.496-167C= NP_001369642.1:n.496-167C=