Canonical Allele Identifier: CA16617482
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 423305
ClinVar RCV Id: RCV000482752 RCV002525928 RCV003168973
dbSNP Id: rs1064796352
gnomAD v2: 2-220290437-GATCAAGACC-G
gnomAD v3: 2-219425715-GATCAAGACC-G
gnomAD v4: 2-219425715-GATCAAGACC-G
MyVariant Identifiers: chr2:g.220290441_220290449del (hg19) chr2:g.220290438_220290446del (hg19) chr2:g.219425719_219425727del (hg38) chr2:g.219425716_219425724del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425719_219425727del , CM000664.2:g.219425719_219425727del GRCh38
NC_000002.11:g.220290441_220290449del , CM000664.1:g.220290441_220290449del GRCh37
NC_000002.10:g.219998685_219998693del NCBI36
NG_008043.1:g.12343_12351del , LRG_380:g.12343_12351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.819_827del
ENST00000683013.1:n.733_741del
ENST00000373960.4:c.1345_1353del MANE Select ENSP00000363071.3:p.Lys449_Ile451del
ENST00000373960.3:c.1345_1353del ENSP00000363071.3:p.Lys449_Ile451del
ENST00000483395.1:n.200_208del
NM_001927.3:c.1345_1353del , LRG_380t1:c.1345_1353del NP_001918.3:p.Lys449_Ile451del
NM_001927.4:c.1345_1353del MANE Select NP_001918.3:p.Lys449_Ile451del
NM_001382708.1:c.1342_1350del NP_001369637.1:p.Lys448_Ile450del
NM_001382709.1:c.913_921del NP_001369638.1:p.Lys305_Ile307del
NM_001382710.1:c.1276_1284del NP_001369639.1:p.Lys426_Ile428del
NM_001382711.1:c.1324_1332del NP_001369640.1:p.Lys442_Ile444del
NM_001382712.1:c.1345_1353del NP_001369641.1:p.Lys449_Ile451del
NM_001382713.1:c.1075_1083del NP_001369642.1:p.Lys359_Ile361del
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