Canonical Allele Identifier: CA2843174793

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421449dup , CM000664.2:g.219421449dup	GRCh38
NC_000002.11:g.220286171dup , CM000664.1:g.220286171dup	GRCh37
NC_000002.10:g.219994415dup	NCBI36
NG_008043.1:g.8073dup , LRG_380:g.8073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.607dup
ENST00000683013.1:n.521dup
ENST00000373960.4:c.1133dup MANE Select	ENSP00000363071.3:p.Asp379GlyfsTer2
ENST00000373960.3:c.1133dup	ENSP00000363071.3:p.Asp379GlyfsTer2
ENST00000477226.5:n.605dup
ENST00000492726.1:n.528dup
NM_001927.3:c.1133dup , LRG_380t1:c.1133dup	NP_001918.3:p.Asp379GlyfsTer2
NM_001927.4:c.1133dup MANE Select	NP_001918.3:p.Asp379GlyfsTer2
NM_001382708.1:c.1130dup	NP_001369637.1:p.Asp378GlyfsTer2
NM_001382709.1:c.736-35dup	NP_001369638.1:n.736-35dup
NM_001382710.1:c.1064dup	NP_001369639.1:p.Asp356GlyfsTer2
NM_001382711.1:c.1112dup	NP_001369640.1:p.Asp372GlyfsTer2
NM_001382712.1:c.1133dup	NP_001369641.1:p.Asp379GlyfsTer2
NM_001382713.1:c.863dup	NP_001369642.1:p.Asp289GlyfsTer2