Canonical Allele Identifier: CA2580616706

Gene: DES

Linked Data

• ClinVar Variation Id: 1051944
• ClinVar RCV Id: RCV001360049 ; RCV003147623 ; RCV003147622
• dbSNP Id: rs2125168730

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421432_219421434del , CM000664.2:g.219421432_219421434del	GRCh38
NC_000002.11:g.220286154_220286156del , CM000664.1:g.220286154_220286156del	GRCh37
NC_000002.10:g.219994398_219994400del	NCBI36
NG_008043.1:g.8056_8058del , LRG_380:g.8056_8058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.590_592del
ENST00000683013.1:n.504_506del
ENST00000373960.4:c.1116_1118del MANE Select	ENSP00000363071.3:p.Glu373del
ENST00000373960.3:c.1116_1118del	ENSP00000363071.3:p.Glu373del
ENST00000477226.5:n.588_590del
ENST00000492726.1:n.511_513del
NM_001927.3:c.1116_1118del , LRG_380t1:c.1116_1118del	NP_001918.3:p.Glu373del
NM_001927.4:c.1116_1118del MANE Select	NP_001918.3:p.Glu373del
NM_001382708.1:c.1113_1115del	NP_001369637.1:p.Glu372del
NM_001382709.1:c.736-52_736-50del	NP_001369638.1:n.736-52_736-50del
NM_001382710.1:c.1047_1049del	NP_001369639.1:p.Glu350del
NM_001382711.1:c.1095_1097del	NP_001369640.1:p.Glu366del
NM_001382712.1:c.1116_1118del	NP_001369641.1:p.Glu373del
NM_001382713.1:c.846_848del	NP_001369642.1:p.Glu283del