Canonical Allele Identifier: CA891843392

Gene: DES

Linked Data

• ClinVar Variation Id: 566310
• ClinVar RCV Id: RCV000686082 ; RCV001592862
• dbSNP Id: rs1559353314
• MyVariant Identifiers: chr2:g.220286196_220286198del (hg19) ; chr2:g.219421474_219421476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421474_219421476del , CM000664.2:g.219421474_219421476del	GRCh38
NC_000002.11:g.220286196_220286198del , CM000664.1:g.220286196_220286198del	GRCh37
NC_000002.10:g.219994440_219994442del	NCBI36
NG_008043.1:g.8098_8100del , LRG_380:g.8098_8100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.632_634del
ENST00000683013.1:n.546_548del
ENST00000373960.4:c.1158_1160del MANE Select	ENSP00000363071.3:p.Glu387del
ENST00000373960.3:c.1158_1160del	ENSP00000363071.3:p.Glu387del
ENST00000477226.5:n.630_632del
ENST00000492726.1:n.553_555del
NM_001927.3:c.1158_1160del , LRG_380t1:c.1158_1160del	NP_001918.3:p.Glu387del
NM_001927.4:c.1158_1160del MANE Select	NP_001918.3:p.Glu387del
NM_001382708.1:c.1155_1157del	NP_001369637.1:p.Glu386del
NM_001382709.1:c.736-10_736-8del	NP_001369638.1:n.736-10_736-8del
NM_001382710.1:c.1089_1091del	NP_001369639.1:p.Glu364del
NM_001382711.1:c.1137_1139del	NP_001369640.1:p.Glu380del
NM_001382712.1:c.1158_1160del	NP_001369641.1:p.Glu387del
NM_001382713.1:c.888_890del	NP_001369642.1:p.Glu297del