Canonical Allele Identifier: CA2754326441
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418895_219418913del , CM000664.2:g.219418895_219418913del GRCh38
NC_000002.11:g.220283617_220283635del , CM000664.1:g.220283617_220283635del GRCh37
NC_000002.10:g.219991861_219991879del NCBI36
NG_008043.1:g.5519_5537del , LRG_380:g.5519_5537del

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.433_451del MANE Select ENSP00000363071.3:p.Gly145TrpfsTer?
ENST00000373960.3:c.433_451del ENSP00000363071.3:p.Gly145TrpfsTer?
NM_001927.3:c.433_451del , LRG_380t1:c.433_451del NP_001918.3:p.Gly145TrpfsTer?
NM_001927.4:c.433_451del MANE Select NP_001918.3:p.Gly145TrpfsTer?
NM_001382708.1:c.433_451del NP_001369637.1:p.Gly145TrpfsTer?
NM_001382709.1:c.433_451del NP_001369638.1:p.Gly145TrpfsTer?
NM_001382710.1:c.433_451del NP_001369639.1:p.Gly145TrpfsTer?
NM_001382711.1:c.433_451del NP_001369640.1:p.Gly145TrpfsTer?
NM_001382712.1:c.433_451del NP_001369641.1:p.Gly145TrpfsTer?
NM_001382713.1:c.433_451del NP_001369642.1:p.Gly145TrpfsTer?