Canonical Allele Identifier: CA764963588
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs1391762425
gnomAD v3: 2-219418407-GGCCGCCTGCCC-G
gnomAD v4: 2-219418407-GGCCGCCTGCCC-G
MyVariant Identifiers: chr2:g.220283130_220283140del (hg19) chr2:g.219418408_219418418del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418415_219418425del , CM000664.2:g.219418415_219418425del GRCh38
NC_000002.11:g.220283137_220283147del , CM000664.1:g.220283137_220283147del GRCh37
NC_000002.10:g.219991381_219991391del NCBI36
NG_008043.1:g.5039_5049del , LRG_380:g.5039_5049del

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.-48_-38del MANE Select ENSP00000363071.3:n.-48_-38del
ENST00000373960.3:c.-48_-38del ENSP00000363071.3:n.-48_-38del
NM_001927.3:c.-48_-38del , LRG_380t1:c.-48_-38del NP_001918.3:n.-48_-38del
NM_001927.4:c.-48_-38del MANE Select NP_001918.3:n.-48_-38del
NM_001382708.1:c.-48_-38del NP_001369637.1:n.-48_-38del
NM_001382709.1:c.-48_-38del NP_001369638.1:n.-48_-38del
NM_001382710.1:c.-48_-38del NP_001369639.1:n.-48_-38del
NM_001382711.1:c.-48_-38del NP_001369640.1:n.-48_-38del
NM_001382712.1:c.-48_-38del NP_001369641.1:n.-48_-38del
NM_001382713.1:c.-48_-38del NP_001369642.1:n.-48_-38del
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