Canonical Allele Identifier: CA539843376

Gene: DES

Linked Data

• dbSNP Id: rs1444585729
• gnomAD v2: 2-220290710-TA-T
• gnomAD v4: 2-219425988-TA-T
• MyVariant Identifiers: chr2:g.220290711del (hg19) ; chr2:g.219425989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425991del , CM000664.2:g.219425991del	GRCh38
NC_000002.11:g.220290713del , CM000664.1:g.220290713del	GRCh37
NC_000002.10:g.219998957del	NCBI36
NG_008043.1:g.12615del , LRG_380:g.12615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.888del
ENST00000683013.1:n.802del
ENST00000373960.4:c.*1del MANE Select	ENSP00000363071.3:n.*1del
ENST00000373960.3:c.*1del	ENSP00000363071.3:n.*1del
ENST00000483395.1:n.269del
NM_001927.3:c.*1del , LRG_380t1:c.*1del	NP_001918.3:n.*1del
NM_001927.4:c.*1del MANE Select	NP_001918.3:n.*1del
NM_001382708.1:c.*1del	NP_001369637.1:n.*1del
NM_001382709.1:c.*1del	NP_001369638.1:n.*1del
NM_001382710.1:c.*1del	NP_001369639.1:n.*1del
NM_001382711.1:c.*1del	NP_001369640.1:n.*1del
NM_001382712.1:c.1371+246del	NP_001369641.1:n.1371+246del
NM_001382713.1:c.*1del	NP_001369642.1:n.*1del