Canonical Allele Identifier: CA2580065793

Gene: DES

Linked Data

• ClinVar Variation Id: 2440742
• ClinVar RCV Id: RCV003146043

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418999_219419004dup , CM000664.2:g.219418999_219419004dup	GRCh38
NC_000002.11:g.220283721_220283726dup , CM000664.1:g.220283721_220283726dup	GRCh37
NC_000002.10:g.219991965_219991970dup	NCBI36
NG_008043.1:g.5623_5628dup , LRG_380:g.5623_5628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.537_542dup MANE Select	ENSP00000363071.3:p.Arg180_Asp181insGluArg
ENST00000373960.3:c.537_542dup	ENSP00000363071.3:p.Arg180_Asp181insGluArg
NM_001927.3:c.537_542dup , LRG_380t1:c.537_542dup	NP_001918.3:p.Arg180_Asp181insGluArg
NM_001927.4:c.537_542dup MANE Select	NP_001918.3:p.Arg180_Asp181insGluArg
NM_001382708.1:c.537_542dup	NP_001369637.1:p.Arg180_Asp181insGluArg
NM_001382709.1:c.537_542dup	NP_001369638.1:p.Arg180_Asp181insGluArg
NM_001382710.1:c.537_542dup	NP_001369639.1:p.Arg180_Asp181insGluArg
NM_001382711.1:c.537_542dup	NP_001369640.1:p.Arg180_Asp181insGluArg
NM_001382712.1:c.537_542dup	NP_001369641.1:p.Arg180_Asp181insGluArg
NM_001382713.1:c.495+42_495+47dup	NP_001369642.1:n.495+42_495+47dup