Canonical Allele Identifier: CA2125073

Gene: DES

Linked Data

• ClinVar Variation Id: 1069497
• ClinVar RCV Id: RCV001381376
• dbSNP Id: rs769096434
• ExAC: 2:220283699 AGC / A
• gnomAD v2: 2-220283699-AGC-A
• gnomAD v4: 2-219418977-AGC-A
• COSMIC: COSM5861840
• MyVariant Identifiers: chr2:g.220283700_220283701del (hg19) ; chr2:g.219418979_219418980del (hg38) ; chr2:g.219418978_219418979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418987_219418988del , CM000664.2:g.219418987_219418988del	GRCh38
NC_000002.11:g.220283709_220283710del , CM000664.1:g.220283709_220283710del	GRCh37
NC_000002.10:g.219991953_219991954del	NCBI36
NG_008043.1:g.5611_5612del , LRG_380:g.5611_5612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.525_526del MANE Select	ENSP00000363071.3:p.Val176ArgfsTer?
ENST00000373960.3:c.525_526del	ENSP00000363071.3:p.Val176ArgfsTer?
NM_001927.3:c.525_526del , LRG_380t1:c.525_526del	NP_001918.3:p.Val176ArgfsTer?
NM_001927.4:c.525_526del MANE Select	NP_001918.3:p.Val176ArgfsTer?
NM_001382708.1:c.525_526del	NP_001369637.1:p.Val176ArgfsTer?
NM_001382709.1:c.525_526del	NP_001369638.1:p.Val176ArgfsTer?
NM_001382710.1:c.525_526del	NP_001369639.1:p.Val176ArgfsTer?
NM_001382711.1:c.525_526del	NP_001369640.1:p.Val176ArgfsTer?
NM_001382712.1:c.525_526del	NP_001369641.1:p.Val176ArgfsTer?
NM_001382713.1:c.495+30_495+31del	NP_001369642.1:n.495+30_495+31del