Canonical Allele Identifier: CA217009

Gene: DES

Linked Data

• ClinVar Variation Id: 66391
• ClinVar RCV Id: RCV000056770 ; RCV002274893
• dbSNP Id: rs58409037
• MyVariant Identifiers: chr2:g.220286113_220286121del (hg19) ; chr2:g.219421391_219421399del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421392_219421400del , CM000664.2:g.219421392_219421400del	GRCh38
NC_000002.11:g.220286114_220286122del , CM000664.1:g.220286114_220286122del	GRCh37
NC_000002.10:g.219994358_219994366del	NCBI36
NG_008043.1:g.8016_8024del , LRG_380:g.8016_8024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.550_558del
ENST00000683013.1:n.464_472del
ENST00000373960.4:c.1076_1084del MANE Select	ENSP00000363071.3:p.Glu359_Ser361del
ENST00000373960.3:c.1076_1084del	ENSP00000363071.3:p.Glu359_Ser361del
ENST00000477226.5:n.548_556del
ENST00000492726.1:n.471_479del
NM_001927.3:c.1076_1084del , LRG_380t1:c.1076_1084del	NP_001918.3:p.Glu359_Ser361del
NM_001927.4:c.1076_1084del MANE Select	NP_001918.3:p.Glu359_Ser361del
NM_001382708.1:c.1073_1081del	NP_001369637.1:p.Glu358_Ser360del
NM_001382709.1:c.736-92_736-84del	NP_001369638.1:n.736-92_736-84del
NM_001382710.1:c.1024-17_1024-9del	NP_001369639.1:n.1024-17_1024-9del
NM_001382711.1:c.1055_1063del	NP_001369640.1:p.Glu352_Ser354del
NM_001382712.1:c.1076_1084del	NP_001369641.1:p.Glu359_Ser361del
NM_001382713.1:c.806_814del	NP_001369642.1:p.Glu269_Ser271del