Canonical Allele Identifier: CA1329213249

Gene: DES

Linked Data

• dbSNP Id: rs1954529082

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426002dup , CM000664.2:g.219426002dup	GRCh38
NC_000002.11:g.220290724dup , CM000664.1:g.220290724dup	GRCh37
NC_000002.10:g.219998968dup	NCBI36
NG_008043.1:g.12626dup , LRG_380:g.12626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.899dup
ENST00000683013.1:n.813dup
ENST00000373960.4:c.*12dup MANE Select	ENSP00000363071.3:n.*12dup
ENST00000373960.3:c.*12dup	ENSP00000363071.3:n.*12dup
ENST00000483395.1:n.280dup
NM_001927.3:c.*12dup , LRG_380t1:c.*12dup	NP_001918.3:n.*12dup
NM_001927.4:c.*12dup MANE Select	NP_001918.3:n.*12dup
NM_001382708.1:c.*12dup	NP_001369637.1:n.*12dup
NM_001382709.1:c.*12dup	NP_001369638.1:n.*12dup
NM_001382710.1:c.*12dup	NP_001369639.1:n.*12dup
NM_001382711.1:c.*12dup	NP_001369640.1:n.*12dup
NM_001382712.1:c.1371+257dup	NP_001369641.1:n.1371+257dup
NM_001382713.1:c.*12dup	NP_001369642.1:n.*12dup