Canonical Allele Identifier: CA2573051861

Gene: DES

Linked Data

• dbSNP Id: rs2125166264

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418807dup , CM000664.2:g.219418807dup	GRCh38
NC_000002.11:g.220283529dup , CM000664.1:g.220283529dup	GRCh37
NC_000002.10:g.219991773dup	NCBI36
NG_008043.1:g.5431dup , LRG_380:g.5431dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.345dup MANE Select	ENSP00000363071.3:p.Asn116GlnfsTer2
ENST00000373960.3:c.345dup	ENSP00000363071.3:p.Asn116GlnfsTer2
NM_001927.3:c.345dup , LRG_380t1:c.345dup	NP_001918.3:p.Asn116GlnfsTer2
NM_001927.4:c.345dup MANE Select	NP_001918.3:p.Asn116GlnfsTer2
NM_001382708.1:c.345dup	NP_001369637.1:p.Asn116GlnfsTer2
NM_001382709.1:c.345dup	NP_001369638.1:p.Asn116GlnfsTer2
NM_001382710.1:c.345dup	NP_001369639.1:p.Asn116GlnfsTer2
NM_001382711.1:c.345dup	NP_001369640.1:p.Asn116GlnfsTer2
NM_001382712.1:c.345dup	NP_001369641.1:p.Asn116GlnfsTer2
NM_001382713.1:c.345dup	NP_001369642.1:p.Asn116GlnfsTer2