Canonical Allele Identifier: CA1329213036
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425538C= , CM000664.2:g.219425538C= GRCh38
NC_000002.11:g.220290260C= , CM000664.1:g.220290260C= GRCh37
NC_000002.10:g.219998504C= NCBI36
NG_008043.1:g.12162C= , LRG_380:g.12162C=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.763-125C=
ENST00000683013.1:n.677-125C=
ENST00000373960.4:c.1289-125C= MANE Select ENSP00000363071.3:n.1289-125C=
ENST00000373960.3:c.1289-125C= ENSP00000363071.3:n.1289-125C=
ENST00000483395.1:n.19C=
NM_001927.3:c.1289-125C= , LRG_380t1:c.1289-125C= NP_001918.3:n.1289-125C=
NM_001927.4:c.1289-125C= MANE Select NP_001918.3:n.1289-125C=
NM_001382708.1:c.1286-125C= NP_001369637.1:n.1286-125C=
NM_001382709.1:c.857-125C= NP_001369638.1:n.857-125C=
NM_001382710.1:c.1220-125C= NP_001369639.1:n.1220-125C=
NM_001382711.1:c.1268-125C= NP_001369640.1:n.1268-125C=
NM_001382712.1:c.1289-125C= NP_001369641.1:n.1289-125C=
NM_001382713.1:c.1019-125C= NP_001369642.1:n.1019-125C=