Canonical Allele Identifier: CA539843377

Gene: DES

Linked Data

• dbSNP Id: rs1309034410
• gnomAD v2: 2-220290716-CAG-C
• MyVariant Identifiers: chr2:g.220290717_220290718del (hg19) ; chr2:g.219425995_219425996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425998_219425999del , CM000664.2:g.219425998_219425999del	GRCh38
NC_000002.11:g.220290720_220290721del , CM000664.1:g.220290720_220290721del	GRCh37
NC_000002.10:g.219998964_219998965del	NCBI36
NG_008043.1:g.12622_12623del , LRG_380:g.12622_12623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.895_896del
ENST00000683013.1:n.809_810del
ENST00000373960.4:c.*8_*9del MANE Select	ENSP00000363071.3:n.*8_*9del
ENST00000373960.3:c.*8_*9del	ENSP00000363071.3:n.*8_*9del
ENST00000483395.1:n.276_277del
NM_001927.3:c.*8_*9del , LRG_380t1:c.*8_*9del	NP_001918.3:n.*8_*9del
NM_001927.4:c.*8_*9del MANE Select	NP_001918.3:n.*8_*9del
NM_001382708.1:c.*8_*9del	NP_001369637.1:n.*8_*9del
NM_001382709.1:c.*8_*9del	NP_001369638.1:n.*8_*9del
NM_001382710.1:c.*8_*9del	NP_001369639.1:n.*8_*9del
NM_001382711.1:c.*8_*9del	NP_001369640.1:n.*8_*9del
NM_001382712.1:c.1371+253_1371+254del	NP_001369641.1:n.1371+253_1371+254del
NM_001382713.1:c.*8_*9del	NP_001369642.1:n.*8_*9del