Canonical Allele Identifier: CA2586971386

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425684del , CM000664.2:g.219425684del	GRCh38
NC_000002.11:g.220290406del , CM000664.1:g.220290406del	GRCh37
NC_000002.10:g.219998650del	NCBI36
NG_008043.1:g.12308del , LRG_380:g.12308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.784del
ENST00000683013.1:n.698del
ENST00000373960.4:c.1310del MANE Select	ENSP00000363071.3:p.Gly437ValfsTer10
ENST00000373960.3:c.1310del	ENSP00000363071.3:p.Gly437ValfsTer10
ENST00000483395.1:n.165del
NM_001927.3:c.1310del , LRG_380t1:c.1310del	NP_001918.3:p.Gly437ValfsTer10
NM_001927.4:c.1310del MANE Select	NP_001918.3:p.Gly437ValfsTer10
NM_001382708.1:c.1307del	NP_001369637.1:p.Gly436ValfsTer10
NM_001382709.1:c.878del	NP_001369638.1:p.Gly293ValfsTer10
NM_001382710.1:c.1241del	NP_001369639.1:p.Gly414ValfsTer10
NM_001382711.1:c.1289del	NP_001369640.1:p.Gly430ValfsTer10
NM_001382712.1:c.1310del	NP_001369641.1:p.Gly437ValfsTer10
NM_001382713.1:c.1040del	NP_001369642.1:p.Gly347ValfsTer10