Canonical Allele Identifier: CA1329210932
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420664G= , CM000664.2:g.219420664G= GRCh38
NC_000002.11:g.220285386G= , CM000664.1:g.220285386G= GRCh37
NC_000002.10:g.219993630G= NCBI36
NG_008043.1:g.7288G= , LRG_380:g.7288G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.371+8G=
ENST00000683013.1:n.285+8G=
ENST00000373960.4:c.897+8G= MANE Select ENSP00000363071.3:n.897+8G=
ENST00000373960.3:c.897+8G= ENSP00000363071.3:n.897+8G=
ENST00000477226.5:n.369+8G=
ENST00000492726.1:n.292+8G=
NM_001927.3:c.897+8G= , LRG_380t1:c.897+8G= NP_001918.3:n.897+8G=
NM_001927.4:c.897+8G= MANE Select NP_001918.3:n.897+8G=
NM_001382708.1:c.894+8G= NP_001369637.1:n.894+8G=
NM_001382709.1:c.735+318G= NP_001369638.1:n.735+318G=
NM_001382710.1:c.897+8G= NP_001369639.1:n.897+8G=
NM_001382711.1:c.897+8G= NP_001369640.1:n.897+8G=
NM_001382712.1:c.897+8G= NP_001369641.1:n.897+8G=
NM_001382713.1:c.627+8G= NP_001369642.1:n.627+8G=