Canonical Allele Identifier: CA10602840

Gene: DES

Linked Data

• ClinVar Variation Id: 280206
• ClinVar RCV Id: RCV000322209
• dbSNP Id: rs886041454
• MyVariant Identifiers: chr2:g.220286261del (hg19) ; chr2:g.219421539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421539del , CM000664.2:g.219421539del	GRCh38
NC_000002.11:g.220286261del , CM000664.1:g.220286261del	GRCh37
NC_000002.10:g.219994505del	NCBI36
NG_008043.1:g.8163del , LRG_380:g.8163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.697del
ENST00000683013.1:n.611del
ENST00000373960.4:c.1223del MANE Select	ENSP00000363071.3:p.Leu408ArgfsTer?
ENST00000373960.3:c.1223del	ENSP00000363071.3:p.Leu408ArgfsTer?
ENST00000477226.5:n.695del
ENST00000492726.1:n.618del
NM_001927.3:c.1223del , LRG_380t1:c.1223del	NP_001918.3:p.Leu408ArgfsTer?
NM_001927.4:c.1223del MANE Select	NP_001918.3:p.Leu408ArgfsTer?
NM_001382708.1:c.1220del	NP_001369637.1:p.Leu407ArgfsTer?
NM_001382709.1:c.791del	NP_001369638.1:p.Leu264ArgfsTer?
NM_001382710.1:c.1154del	NP_001369639.1:p.Leu385ArgfsTer?
NM_001382711.1:c.1202del	NP_001369640.1:p.Leu401ArgfsTer?
NM_001382712.1:c.1223del	NP_001369641.1:p.Leu408ArgfsTer?
NM_001382713.1:c.953del	NP_001369642.1:p.Leu318ArgfsTer?