Canonical Allele Identifier: CA764966070

Gene: DES

Linked Data

• dbSNP Id: rs1294927841
• gnomAD v3: 2-219421215-A-AT
• gnomAD v4: 2-219421215-A-AT
• MyVariant Identifiers: chr2:g.220285937_220285938insT (hg19) ; chr2:g.219421215_219421216insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421218dup , CM000664.2:g.219421218dup	GRCh38
NC_000002.11:g.220285940dup , CM000664.1:g.220285940dup	GRCh37
NC_000002.10:g.219994184dup	NCBI36
NG_008043.1:g.7842dup , LRG_380:g.7842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-122dup
ENST00000683013.1:n.412-122dup
ENST00000373960.4:c.1024-122dup MANE Select	ENSP00000363071.3:n.1024-122dup
ENST00000373960.3:c.1024-122dup	ENSP00000363071.3:n.1024-122dup
ENST00000477226.5:n.496-122dup
ENST00000492726.1:n.419-122dup
NM_001927.3:c.1024-122dup , LRG_380t1:c.1024-122dup	NP_001918.3:n.1024-122dup
NM_001927.4:c.1024-122dup MANE Select	NP_001918.3:n.1024-122dup
NM_001382708.1:c.1021-122dup	NP_001369637.1:n.1021-122dup
NM_001382709.1:c.736-266dup	NP_001369638.1:n.736-266dup
NM_001382710.1:c.1024-191dup	NP_001369639.1:n.1024-191dup
NM_001382711.1:c.1024-143dup	NP_001369640.1:n.1024-143dup
NM_001382712.1:c.1024-122dup	NP_001369641.1:n.1024-122dup
NM_001382713.1:c.754-122dup	NP_001369642.1:n.754-122dup