Canonical Allele Identifier: CA645369281

Gene: DES

Linked Data

• ClinVar Variation Id: 265817
• ClinVar RCV Id: RCV000491577
• dbSNP Id: rs1114167332

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418955_219418982delinsGCGT , CM000664.2:g.219418955_219418982delinsGCGT	GRCh38
NC_000002.11:g.220283677_220283704delinsGCGT , CM000664.1:g.220283677_220283704delinsGCGT	GRCh37
NC_000002.10:g.219991921_219991948delinsGCGT	NCBI36
NG_008043.1:g.5579_5606delinsGCGT , LRG_380:g.5579_5606delinsGCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.493_520delinsGCGT MANE Select	ENSP00000363071.3:p.Gln165_Ala174delinsAl...
ENST00000373960.3:c.493_520delinsGCGT	ENSP00000363071.3:p.Gln165_Ala174delinsAl...
NM_001927.3:c.493_520delinsGCGT , LRG_380t1:c.493_520delinsGCGT	NP_001918.3:p.Gln165_Ala174delinsAlaSer
NM_001927.4:c.493_520delinsGCGT MANE Select	NP_001918.3:p.Gln165_Ala174delinsAlaSer
NM_001382708.1:c.493_520delinsGCGT	NP_001369637.1:p.Gln165_Ala174delinsAlaSe...
NM_001382709.1:c.493_520delinsGCGT	NP_001369638.1:p.Gln165_Ala174delinsAlaSe...
NM_001382710.1:c.493_520delinsGCGT	NP_001369639.1:p.Gln165_Ala174delinsAlaSe...
NM_001382711.1:c.493_520delinsGCGT	NP_001369640.1:p.Gln165_Ala174delinsAlaSe...
NM_001382712.1:c.493_520delinsGCGT	NP_001369641.1:p.Gln165_Ala174delinsAlaSe...
NM_001382713.1:c.493_495+25delinsGCGT