Canonical Allele Identifier: CA1329210671

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420164_219420167delinsCCTT , CM000664.2:g.219420164_219420167delinsCCTT	GRCh38
NC_000002.11:g.220284886_220284889delinsCCTT , CM000664.1:g.220284886_220284889delinsCCTT	GRCh37
NC_000002.10:g.219993130_219993133delinsCCTT	NCBI36
NG_008043.1:g.6788_6791delinsCCTT , LRG_380:g.6788_6791delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.113+9_113+12delinsCCTT
ENST00000373960.4:c.639+9_639+12delinsCCTT MANE Select	ENSP00000363071.3:n.639+9_639+12delinsCCTT
ENST00000373960.3:c.639+9_639+12delinsCCTT	ENSP00000363071.3:n.639+9_639+12delinsCCTT
ENST00000477226.5:n.111+9_111+12delinsCCTT
ENST00000492726.1:n.34+9_34+12delinsCCTT
NM_001927.3:c.639+9_639+12delinsCCTT , LRG_380t1:c.639+9_639+12delinsCCTT	NP_001918.3:n.639+9_639+12delinsCCTT
NM_001927.4:c.639+9_639+12delinsCCTT MANE Select	NP_001918.3:n.639+9_639+12delinsCCTT
NM_001382708.1:c.636+12_636+15delinsCCTT	NP_001369637.1:n.636+12_636+15delinsCCTT
NM_001382709.1:c.639+9_639+12delinsCCTT	NP_001369638.1:n.639+9_639+12delinsCCTT
NM_001382710.1:c.639+9_639+12delinsCCTT	NP_001369639.1:n.639+9_639+12delinsCCTT
NM_001382711.1:c.639+9_639+12delinsCCTT	NP_001369640.1:n.639+9_639+12delinsCCTT
NM_001382712.1:c.639+9_639+12delinsCCTT	NP_001369641.1:n.639+9_639+12delinsCCTT
NM_001382713.1:c.496-361_496-358delinsCCTT	NP_001369642.1:n.496-361_496-358delinsCCTT