Canonical Allele Identifier: CA133882
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 44273
ClinVar RCV Id: RCV000037255 RCV000298076 RCV000304469 RCV000352919 RCV000462365 RCV000770170
dbSNP Id: rs397516699
ExAC: 2:220285380 TGG / T
gnomAD v2: 2-220285380-TGG-T
gnomAD v3: 2-219420658-TGG-T
gnomAD v4: 2-219420658-TGG-T
MyVariant Identifiers: chr2:g.220285382_220285383del (hg19) chr2:g.220285381_220285382del (hg19) chr2:g.219420660_219420661del (hg38) chr2:g.219420659_219420660del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420660_219420661del , CM000664.2:g.219420660_219420661del GRCh38
NC_000002.11:g.220285382_220285383del , CM000664.1:g.220285382_220285383del GRCh37
NC_000002.10:g.219993626_219993627del NCBI36
NG_008043.1:g.7284_7285del , LRG_380:g.7284_7285del

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.371+4_371+5del
ENST00000683013.1:n.285+4_285+5del
ENST00000373960.4:c.897+4_897+5del MANE Select ENSP00000363071.3:n.897+4_897+5del
ENST00000373960.3:c.897+4_897+5del ENSP00000363071.3:n.897+4_897+5del
ENST00000477226.5:n.369+4_369+5del
ENST00000492726.1:n.292+4_292+5del
NM_001927.3:c.897+4_897+5del , LRG_380t1:c.897+4_897+5del NP_001918.3:n.897+4_897+5del
NM_001927.4:c.897+4_897+5del MANE Select NP_001918.3:n.897+4_897+5del
NM_001382708.1:c.894+4_894+5del NP_001369637.1:n.894+4_894+5del
NM_001382709.1:c.735+314_735+315del NP_001369638.1:n.735+314_735+315del
NM_001382710.1:c.897+4_897+5del NP_001369639.1:n.897+4_897+5del
NM_001382711.1:c.897+4_897+5del NP_001369640.1:n.897+4_897+5del
NM_001382712.1:c.897+4_897+5del NP_001369641.1:n.897+4_897+5del
NM_001382713.1:c.627+4_627+5del NP_001369642.1:n.627+4_627+5del
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