Canonical Allele Identifier: CA2580065864

Gene: DES

Linked Data

• ClinVar Variation Id: 1988221
• ClinVar RCV Id: RCV002781192

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421487del , CM000664.2:g.219421487del	GRCh38
NC_000002.11:g.220286209del , CM000664.1:g.220286209del	GRCh37
NC_000002.10:g.219994453del	NCBI36
NG_008043.1:g.8111del , LRG_380:g.8111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.645del
ENST00000683013.1:n.559del
ENST00000373960.4:c.1171del MANE Select	ENSP00000363071.3:p.Leu391CysfsTer4
ENST00000373960.3:c.1171del	ENSP00000363071.3:p.Leu391CysfsTer4
ENST00000477226.5:n.643del
ENST00000492726.1:n.566del
NM_001927.3:c.1171del , LRG_380t1:c.1171del	NP_001918.3:p.Leu391CysfsTer4
NM_001927.4:c.1171del MANE Select	NP_001918.3:p.Leu391CysfsTer4
NM_001382708.1:c.1168del	NP_001369637.1:p.Leu390CysfsTer4
NM_001382709.1:c.739del	NP_001369638.1:p.Leu247CysfsTer4
NM_001382710.1:c.1102del	NP_001369639.1:p.Leu368CysfsTer4
NM_001382711.1:c.1150del	NP_001369640.1:p.Leu384CysfsTer4
NM_001382712.1:c.1171del	NP_001369641.1:p.Leu391CysfsTer4
NM_001382713.1:c.901del	NP_001369642.1:p.Leu301CysfsTer4