Canonical Allele Identifier: CA1329211267

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421409_219421412delinsGACA , CM000664.2:g.219421409_219421412delinsGACA	GRCh38
NC_000002.11:g.220286131_220286134delinsGACA , CM000664.1:g.220286131_220286134delinsGACA	GRCh37
NC_000002.10:g.219994375_219994378delinsGACA	NCBI36
NG_008043.1:g.8033_8036delinsGACA , LRG_380:g.8033_8036delinsGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.567_570delinsGACA
ENST00000683013.1:n.481_484delinsGACA
ENST00000373960.4:c.1093_1096delinsGACA MANE Select	ENSP00000363071.3:p.Asp365=
ENST00000373960.3:c.1093_1096delinsGACA	ENSP00000363071.3:p.Asp365=
ENST00000477226.5:n.565_568delinsGACA
ENST00000492726.1:n.488_491delinsGACA
NM_001927.3:c.1093_1096delinsGACA , LRG_380t1:c.1093_1096delinsGACA	NP_001918.3:p.Asp365=
NM_001927.4:c.1093_1096delinsGACA MANE Select	NP_001918.3:p.Asp365=
NM_001382708.1:c.1090_1093delinsGACA	NP_001369637.1:p.Asp364=
NM_001382709.1:c.736-75_736-72delinsGACA	NP_001369638.1:n.736-75_736-72delinsGACA
NM_001382710.1:c.1024_1027delinsGACA	NP_001369639.1:p.Asp342=
NM_001382711.1:c.1072_1075delinsGACA	NP_001369640.1:p.Asp358=
NM_001382712.1:c.1093_1096delinsGACA	NP_001369641.1:p.Asp365=
NM_001382713.1:c.823_826delinsGACA	NP_001369642.1:p.Asp275=