Canonical Allele Identifier: CA2843174794

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421473dup , CM000664.2:g.219421473dup	GRCh38
NC_000002.11:g.220286195dup , CM000664.1:g.220286195dup	GRCh37
NC_000002.10:g.219994439dup	NCBI36
NG_008043.1:g.8097dup , LRG_380:g.8097dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.631dup
ENST00000683013.1:n.545dup
ENST00000373960.4:c.1157dup MANE Select	ENSP00000363071.3:p.Glu387ArgfsTer?
ENST00000373960.3:c.1157dup	ENSP00000363071.3:p.Glu387ArgfsTer?
ENST00000477226.5:n.629dup
ENST00000492726.1:n.552dup
NM_001927.3:c.1157dup , LRG_380t1:c.1157dup	NP_001918.3:p.Glu387ArgfsTer?
NM_001927.4:c.1157dup MANE Select	NP_001918.3:p.Glu387ArgfsTer?
NM_001382708.1:c.1154dup	NP_001369637.1:p.Glu386ArgfsTer?
NM_001382709.1:c.736-11dup	NP_001369638.1:n.736-11dup
NM_001382710.1:c.1088dup	NP_001369639.1:p.Glu364ArgfsTer?
NM_001382711.1:c.1136dup	NP_001369640.1:p.Glu380ArgfsTer?
NM_001382712.1:c.1157dup	NP_001369641.1:p.Glu387ArgfsTer?
NM_001382713.1:c.887dup	NP_001369642.1:p.Glu297ArgfsTer?