Canonical Allele Identifier: CA539843108

Gene: DES

Linked Data

• ClinVar Variation Id: 2028787
• ClinVar RCV Id: RCV002893994 ; RCV003146648
• dbSNP Id: rs1214890953
• gnomAD v2: 2-220283716-GTCGAGCGCGACAACCTGC-G
• gnomAD v3: 2-219418994-GTCGAGCGCGACAACCTGC-G
• gnomAD v4: 2-219418994-GTCGAGCGCGACAACCTGC-G
• MyVariant Identifiers: chr2:g.220283717_220283734del (hg19) ; chr2:g.219418995_219419012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418999_219419016del , CM000664.2:g.219418999_219419016del	GRCh38
NC_000002.11:g.220283721_220283738del , CM000664.1:g.220283721_220283738del	GRCh37
NC_000002.10:g.219991965_219991982del	NCBI36
NG_008043.1:g.5623_5640del , LRG_380:g.5623_5640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.537_554del MANE Select	ENSP00000363071.3:p.Glu179_Leu184del
ENST00000373960.3:c.537_554del	ENSP00000363071.3:p.Glu179_Leu184del
NM_001927.3:c.537_554del , LRG_380t1:c.537_554del	NP_001918.3:p.Glu179_Leu184del
NM_001927.4:c.537_554del MANE Select	NP_001918.3:p.Glu179_Leu184del
NM_001382708.1:c.537_554del	NP_001369637.1:p.Glu179_Leu184del
NM_001382709.1:c.537_554del	NP_001369638.1:p.Glu179_Leu184del
NM_001382710.1:c.537_554del	NP_001369639.1:p.Glu179_Leu184del
NM_001382711.1:c.537_554del	NP_001369640.1:p.Glu179_Leu184del
NM_001382712.1:c.537_554del	NP_001369641.1:p.Glu179_Leu184del
NM_001382713.1:c.495+42_495+59del	NP_001369642.1:n.495+42_495+59del