Canonical Allele Identifier: CA2580065786

Gene: DES

Linked Data

• ClinVar Variation Id: 1996089
• ClinVar RCV Id: RCV002801793

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418944_219418952dup , CM000664.2:g.219418944_219418952dup	GRCh38
NC_000002.11:g.220283666_220283674dup , CM000664.1:g.220283666_220283674dup	GRCh37
NC_000002.10:g.219991910_219991918dup	NCBI36
NG_008043.1:g.5568_5576dup , LRG_380:g.5568_5576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.482_490dup MANE Select	ENSP00000363071.3:p.Arg163_Arg164insGlnLeuArg
ENST00000373960.3:c.482_490dup	ENSP00000363071.3:p.Arg163_Arg164insGlnLeuArg
NM_001927.3:c.482_490dup , LRG_380t1:c.482_490dup	NP_001918.3:p.Arg163_Arg164insGlnLeuArg
NM_001927.4:c.482_490dup MANE Select	NP_001918.3:p.Arg163_Arg164insGlnLeuArg
NM_001382708.1:c.482_490dup	NP_001369637.1:p.Arg163_Arg164insGlnLeuArg
NM_001382709.1:c.482_490dup	NP_001369638.1:p.Arg163_Arg164insGlnLeuArg
NM_001382710.1:c.482_490dup	NP_001369639.1:p.Arg163_Arg164insGlnLeuArg
NM_001382711.1:c.482_490dup	NP_001369640.1:p.Arg163_Arg164insGlnLeuArg
NM_001382712.1:c.482_490dup	NP_001369641.1:p.Arg163_Arg164insGlnLeuArg
NM_001382713.1:c.482_490dup	NP_001369642.1:p.Arg163_Arg164insGlnLeuArg