Canonical Allele Identifier: CA1329210689

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420195_219420196delinsTG , CM000664.2:g.219420195_219420196delinsTG	GRCh38
NC_000002.11:g.220284917_220284918delinsTG , CM000664.1:g.220284917_220284918delinsTG	GRCh37
NC_000002.10:g.219993161_219993162delinsTG	NCBI36
NG_008043.1:g.6819_6820delinsTG , LRG_380:g.6819_6820delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.113+40_113+41delinsTG
ENST00000373960.4:c.639+40_639+41delinsTG MANE Select	ENSP00000363071.3:n.639+40_639+41delinsTG
ENST00000373960.3:c.639+40_639+41delinsTG	ENSP00000363071.3:n.639+40_639+41delinsTG
ENST00000477226.5:n.111+40_111+41delinsTG
ENST00000492726.1:n.34+40_34+41delinsTG
NM_001927.3:c.639+40_639+41delinsTG , LRG_380t1:c.639+40_639+41delinsTG	NP_001918.3:n.639+40_639+41delinsTG
NM_001927.4:c.639+40_639+41delinsTG MANE Select	NP_001918.3:n.639+40_639+41delinsTG
NM_001382708.1:c.636+43_636+44delinsTG	NP_001369637.1:n.636+43_636+44delinsTG
NM_001382709.1:c.639+40_639+41delinsTG	NP_001369638.1:n.639+40_639+41delinsTG
NM_001382710.1:c.639+40_639+41delinsTG	NP_001369639.1:n.639+40_639+41delinsTG
NM_001382711.1:c.639+40_639+41delinsTG	NP_001369640.1:n.639+40_639+41delinsTG
NM_001382712.1:c.639+40_639+41delinsTG	NP_001369641.1:n.639+40_639+41delinsTG
NM_001382713.1:c.496-330_496-329delinsTG	NP_001369642.1:n.496-330_496-329delinsTG