Canonical Allele Identifier: CA217012

Gene: DES

Linked Data

• ClinVar Variation Id: 16832
• ClinVar RCV Id: RCV000056771 ; RCV001316353
• dbSNP Id: rs58687088
• MyVariant Identifiers: chr2:g.220286134_220286136del (hg19) ; chr2:g.219421412_219421414del (hg38)
• PubMed: PMID:14648196

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421413_219421415del , CM000664.2:g.219421413_219421415del	GRCh38
NC_000002.11:g.220286135_220286137del , CM000664.1:g.220286135_220286137del	GRCh37
NC_000002.10:g.219994379_219994381del	NCBI36
NG_008043.1:g.8037_8039del , LRG_380:g.8037_8039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.571_573del
ENST00000683013.1:n.485_487del
ENST00000373960.4:c.1097_1099del MANE Select	ENSP00000363071.3:p.Asn366del
ENST00000373960.3:c.1097_1099del	ENSP00000363071.3:p.Asn366del
ENST00000477226.5:n.569_571del
ENST00000492726.1:n.492_494del
NM_001927.3:c.1097_1099del , LRG_380t1:c.1097_1099del	NP_001918.3:p.Asn366del
NM_001927.4:c.1097_1099del MANE Select	NP_001918.3:p.Asn366del
NM_001382708.1:c.1094_1096del	NP_001369637.1:p.Asn365del
NM_001382709.1:c.736-71_736-69del	NP_001369638.1:n.736-71_736-69del
NM_001382710.1:c.1028_1030del	NP_001369639.1:p.Asn343del
NM_001382711.1:c.1076_1078del	NP_001369640.1:p.Asn359del
NM_001382712.1:c.1097_1099del	NP_001369641.1:p.Asn366del
NM_001382713.1:c.827_829del	NP_001369642.1:p.Asn276del