Canonical Allele Identifier: CA1329213143
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425747T= , CM000664.2:g.219425747T= GRCh38
NC_000002.11:g.220290469T= , CM000664.1:g.220290469T= GRCh37
NC_000002.10:g.219998713T= NCBI36
NG_008043.1:g.12371T= , LRG_380:g.12371T=

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.845+2T=
ENST00000683013.1:n.759+2T=
ENST00000373960.4:c.1371+2T= MANE Select ENSP00000363071.3:n.1371+2T=
ENST00000373960.3:c.1371+2T= ENSP00000363071.3:n.1371+2T=
ENST00000483395.1:n.226+2T=
NM_001927.3:c.1371+2T= , LRG_380t1:c.1371+2T= NP_001918.3:n.1371+2T=
NM_001927.4:c.1371+2T= MANE Select NP_001918.3:n.1371+2T=
NM_001382708.1:c.1368+2T= NP_001369637.1:n.1368+2T=
NM_001382709.1:c.939+2T= NP_001369638.1:n.939+2T=
NM_001382710.1:c.1302+2T= NP_001369639.1:n.1302+2T=
NM_001382711.1:c.1350+2T= NP_001369640.1:n.1350+2T=
NM_001382712.1:c.1371+2T= NP_001369641.1:n.1371+2T=
NM_001382713.1:c.1101+2T= NP_001369642.1:n.1101+2T=