Canonical Allele Identifier: CA1329211213
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421319_219421320delinsTG , CM000664.2:g.219421319_219421320delinsTG GRCh38
NC_000002.11:g.220286041_220286042delinsTG , CM000664.1:g.220286041_220286042delinsTG GRCh37
NC_000002.10:g.219994285_219994286delinsTG NCBI36
NG_008043.1:g.7943_7944delinsTG , LRG_380:g.7943_7944delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.498-21_498-20delinsTG
ENST00000683013.1:n.412-21_412-20delinsTG
ENST00000373960.4:c.1024-21_1024-20delinsTG MANE Select ENSP00000363071.3:n.1024-21_1024-20delins...
ENST00000373960.3:c.1024-21_1024-20delinsTG ENSP00000363071.3:n.1024-21_1024-20delins...
ENST00000477226.5:n.496-21_496-20delinsTG
ENST00000492726.1:n.419-21_419-20delinsTG
NM_001927.3:c.1024-21_1024-20delinsTG , LRG_380t1:c.1024-21_1024-20delinsTG NP_001918.3:n.1024-21_1024-20delinsTG
NM_001927.4:c.1024-21_1024-20delinsTG MANE Select NP_001918.3:n.1024-21_1024-20delinsTG
NM_001382708.1:c.1021-21_1021-20delinsTG NP_001369637.1:n.1021-21_1021-20delinsTG
NM_001382709.1:c.736-165_736-164delinsTG NP_001369638.1:n.736-165_736-164delinsTG
NM_001382710.1:c.1024-90_1024-89delinsTG NP_001369639.1:n.1024-90_1024-89delinsTG
NM_001382711.1:c.1024-42_1024-41delinsTG NP_001369640.1:n.1024-42_1024-41delinsTG
NM_001382712.1:c.1024-21_1024-20delinsTG NP_001369641.1:n.1024-21_1024-20delinsTG
NM_001382713.1:c.754-21_754-20delinsTG NP_001369642.1:n.754-21_754-20delinsTG