Canonical Allele Identifier: CA2663248109
Gene: DES HGNC NCBI

Linked Data

gnomAD v4: 2-219418396-ACTCTCCGGCCGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418398_219418409del , CM000664.2:g.219418398_219418409del GRCh38
NC_000002.11:g.220283120_220283131del , CM000664.1:g.220283120_220283131del GRCh37
NC_000002.10:g.219991364_219991375del NCBI36
NG_008043.1:g.5022_5033del , LRG_380:g.5022_5033del

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.-65_-54del MANE Select ENSP00000363071.3:n.-65_-54del
ENST00000373960.3:c.-65_-54del ENSP00000363071.3:n.-65_-54del
NM_001927.3:c.-65_-54del , LRG_380t1:c.-65_-54del NP_001918.3:n.-65_-54del
NM_001927.4:c.-65_-54del MANE Select NP_001918.3:n.-65_-54del
NM_001382708.1:c.-65_-54del NP_001369637.1:n.-65_-54del
NM_001382709.1:c.-65_-54del NP_001369638.1:n.-65_-54del
NM_001382710.1:c.-65_-54del NP_001369639.1:n.-65_-54del
NM_001382711.1:c.-65_-54del NP_001369640.1:n.-65_-54del
NM_001382712.1:c.-65_-54del NP_001369641.1:n.-65_-54del
NM_001382713.1:c.-65_-54del NP_001369642.1:n.-65_-54del
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