Canonical Allele Identifier: CA1042519974
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs1954359744

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418503_219418514del , CM000664.2:g.219418503_219418514del GRCh38
NC_000002.11:g.220283225_220283236del , CM000664.1:g.220283225_220283236del GRCh37
NC_000002.10:g.219991469_219991480del NCBI36
NG_008043.1:g.5127_5138del , LRG_380:g.5127_5138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.41_52del MANE Select ENSP00000363071.3:p.Tyr14_Thr17del
ENST00000373960.3:c.41_52del ENSP00000363071.3:p.Tyr14_Thr17del
NM_001927.3:c.41_52del , LRG_380t1:c.41_52del NP_001918.3:p.Tyr14_Thr17del
NM_001927.4:c.41_52del MANE Select NP_001918.3:p.Tyr14_Thr17del
NM_001382708.1:c.41_52del NP_001369637.1:p.Tyr14_Thr17del
NM_001382709.1:c.41_52del NP_001369638.1:p.Tyr14_Thr17del
NM_001382710.1:c.41_52del NP_001369639.1:p.Tyr14_Thr17del
NM_001382711.1:c.41_52del NP_001369640.1:p.Tyr14_Thr17del
NM_001382712.1:c.41_52del NP_001369641.1:p.Tyr14_Thr17del
NM_001382713.1:c.41_52del NP_001369642.1:p.Tyr14_Thr17del