Canonical Allele Identifier: CA2663248924

Gene: DES

Linked Data

• gnomAD v4: 2-219418558-G-GCCCGTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418563_219418570dup , CM000664.2:g.219418563_219418570dup	GRCh38
NC_000002.11:g.220283285_220283292dup , CM000664.1:g.220283285_220283292dup	GRCh37
NC_000002.10:g.219991529_219991536dup	NCBI36
NG_008043.1:g.5187_5194dup , LRG_380:g.5187_5194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.101_108dup MANE Select	ENSP00000363071.3:p.Arg37CysfsTer16
ENST00000373960.3:c.101_108dup	ENSP00000363071.3:p.Arg37CysfsTer16
NM_001927.3:c.101_108dup , LRG_380t1:c.101_108dup	NP_001918.3:p.Arg37CysfsTer16
NM_001927.4:c.101_108dup MANE Select	NP_001918.3:p.Arg37CysfsTer16
NM_001382708.1:c.101_108dup	NP_001369637.1:p.Arg37CysfsTer16
NM_001382709.1:c.101_108dup	NP_001369638.1:p.Arg37CysfsTer16
NM_001382710.1:c.101_108dup	NP_001369639.1:p.Arg37CysfsTer16
NM_001382711.1:c.101_108dup	NP_001369640.1:p.Arg37CysfsTer16
NM_001382712.1:c.101_108dup	NP_001369641.1:p.Arg37CysfsTer16
NM_001382713.1:c.101_108dup	NP_001369642.1:p.Arg37CysfsTer16