Canonical Allele Identifier: CA2125316

Gene: DES

Linked Data

• ClinVar Variation Id: 228546
• ClinVar RCV Id: RCV000220968 ; RCV000824726 ; RCV001440302 ; RCV002381742 ; RCV003897477
• dbSNP Id: rs876657769
• ExAC: 2:220290664 T / TC
• gnomAD v2: 2-220290664-T-TC
• gnomAD v3: 2-219425942-T-TC
• gnomAD v4: 2-219425942-T-TC
• MyVariant Identifiers: chr2:g.220290668dupC (hg19) ; chr2:g.220290664_220290665insC (hg19) ; chr2:g.219425946dupC (hg38) ; chr2:g.219425942_219425943insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425946dup , CM000664.2:g.219425946dup	GRCh38
NC_000002.11:g.220290668dup , CM000664.1:g.220290668dup	GRCh37
NC_000002.10:g.219998912dup	NCBI36
NG_008043.1:g.12570dup , LRG_380:g.12570dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-3dup
ENST00000683013.1:n.760-3dup
ENST00000373960.4:c.1372-3dup MANE Select	ENSP00000363071.3:n.1372-3dup
ENST00000373960.3:c.1372-3dup	ENSP00000363071.3:n.1372-3dup
ENST00000483395.1:n.227-3dup
NM_001927.3:c.1372-3dup , LRG_380t1:c.1372-3dup	NP_001918.3:n.1372-3dup
NM_001927.4:c.1372-3dup MANE Select	NP_001918.3:n.1372-3dup
NM_001382708.1:c.1369-3dup	NP_001369637.1:n.1369-3dup
NM_001382709.1:c.940-3dup	NP_001369638.1:n.940-3dup
NM_001382710.1:c.1303-3dup	NP_001369639.1:n.1303-3dup
NM_001382711.1:c.1351-3dup	NP_001369640.1:n.1351-3dup
NM_001382712.1:c.1371+201dup	NP_001369641.1:n.1371+201dup
NM_001382713.1:c.1102-3dup	NP_001369642.1:n.1102-3dup