Canonical Allele Identifier: CA2580065797

Gene: DES

Linked Data

• ClinVar Variation Id: 1747444
• ClinVar RCV Id: RCV002349496

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419004_219419012del , CM000664.2:g.219419004_219419012del	GRCh38
NC_000002.11:g.220283726_220283734del , CM000664.1:g.220283726_220283734del	GRCh37
NC_000002.10:g.219991970_219991978del	NCBI36
NG_008043.1:g.5628_5636del , LRG_380:g.5628_5636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.542_550del MANE Select	ENSP00000363071.3:p.Asp181_Leu184delinsVal
ENST00000373960.3:c.542_550del	ENSP00000363071.3:p.Asp181_Leu184delinsVal
NM_001927.3:c.542_550del , LRG_380t1:c.542_550del	NP_001918.3:p.Asp181_Leu184delinsVal
NM_001927.4:c.542_550del MANE Select	NP_001918.3:p.Asp181_Leu184delinsVal
NM_001382708.1:c.542_550del	NP_001369637.1:p.Asp181_Leu184delinsVal
NM_001382709.1:c.542_550del	NP_001369638.1:p.Asp181_Leu184delinsVal
NM_001382710.1:c.542_550del	NP_001369639.1:p.Asp181_Leu184delinsVal
NM_001382711.1:c.542_550del	NP_001369640.1:p.Asp181_Leu184delinsVal
NM_001382712.1:c.542_550del	NP_001369641.1:p.Asp181_Leu184delinsVal
NM_001382713.1:c.495+47_495+55del	NP_001369642.1:n.495+47_495+55del