Canonical Allele Identifier: CA2580065782

Gene: DES

Linked Data

• ClinVar Variation Id: 2171104
• ClinVar RCV Id: RCV003080888

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418808_219418812delinsTAGT , CM000664.2:g.219418808_219418812delinsTAGT	GRCh38
NC_000002.11:g.220283530_220283534delinsTAGT , CM000664.1:g.220283530_220283534delinsTAGT	GRCh37
NC_000002.10:g.219991774_219991778delinsTAGT	NCBI36
NG_008043.1:g.5432_5436delinsTAGT , LRG_380:g.5432_5436delinsTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.346_350delinsTAGT MANE Select	ENSP00000363071.3:p.Asn116Ter
ENST00000373960.3:c.346_350delinsTAGT	ENSP00000363071.3:p.Asn116Ter
NM_001927.3:c.346_350delinsTAGT , LRG_380t1:c.346_350delinsTAGT	NP_001918.3:p.Asn116Ter
NM_001927.4:c.346_350delinsTAGT MANE Select	NP_001918.3:p.Asn116Ter
NM_001382708.1:c.346_350delinsTAGT	NP_001369637.1:p.Asn116Ter
NM_001382709.1:c.346_350delinsTAGT	NP_001369638.1:p.Asn116Ter
NM_001382710.1:c.346_350delinsTAGT	NP_001369639.1:p.Asn116Ter
NM_001382711.1:c.346_350delinsTAGT	NP_001369640.1:p.Asn116Ter
NM_001382712.1:c.346_350delinsTAGT	NP_001369641.1:p.Asn116Ter
NM_001382713.1:c.346_350delinsTAGT	NP_001369642.1:p.Asn116Ter