Canonical Allele Identifier: CA1329211151
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421171T= , CM000664.2:g.219421171T= GRCh38
NC_000002.11:g.220285893T= , CM000664.1:g.220285893T= GRCh37
NC_000002.10:g.219994137T= NCBI36
NG_008043.1:g.7795T= , LRG_380:g.7795T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.498-169T=
ENST00000683013.1:n.412-169T=
ENST00000373960.4:c.1024-169T= MANE Select ENSP00000363071.3:n.1024-169T=
ENST00000373960.3:c.1024-169T= ENSP00000363071.3:n.1024-169T=
ENST00000477226.5:n.496-169T=
ENST00000492726.1:n.419-169T=
NM_001927.3:c.1024-169T= , LRG_380t1:c.1024-169T= NP_001918.3:n.1024-169T=
NM_001927.4:c.1024-169T= MANE Select NP_001918.3:n.1024-169T=
NM_001382708.1:c.1021-169T= NP_001369637.1:n.1021-169T=
NM_001382709.1:c.736-313T= NP_001369638.1:n.736-313T=
NM_001382710.1:c.1023+218T= NP_001369639.1:n.1023+218T=
NM_001382711.1:c.1024-190T= NP_001369640.1:n.1024-190T=
NM_001382712.1:c.1024-169T= NP_001369641.1:n.1024-169T=
NM_001382713.1:c.754-169T= NP_001369642.1:n.754-169T=