Canonical Allele Identifier: CA2499215677
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1075297
ClinVar RCV Id: RCV001388854
dbSNP Id: rs2125166454

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418914_219418921del , CM000664.2:g.219418914_219418921del GRCh38
NC_000002.11:g.220283636_220283643del , CM000664.1:g.220283636_220283643del GRCh37
NC_000002.10:g.219991880_219991887del NCBI36
NG_008043.1:g.5538_5545del , LRG_380:g.5538_5545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.452_459del MANE Select ENSP00000363071.3:p.Val151AlafsTer18
ENST00000373960.3:c.452_459del ENSP00000363071.3:p.Val151AlafsTer18
NM_001927.3:c.452_459del , LRG_380t1:c.452_459del NP_001918.3:p.Val151AlafsTer18
NM_001927.4:c.452_459del MANE Select NP_001918.3:p.Val151AlafsTer18
NM_001382708.1:c.452_459del NP_001369637.1:p.Val151AlafsTer18
NM_001382709.1:c.452_459del NP_001369638.1:p.Val151AlafsTer18
NM_001382710.1:c.452_459del NP_001369639.1:p.Val151AlafsTer18
NM_001382711.1:c.452_459del NP_001369640.1:p.Val151AlafsTer18
NM_001382712.1:c.452_459del NP_001369641.1:p.Val151AlafsTer18
NM_001382713.1:c.452_459del NP_001369642.1:p.Val151AlafsTer24