Canonical Allele Identifier: CA2573135387

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421420_219421421delinsAT , CM000664.2:g.219421420_219421421delinsAT	GRCh38
NC_000002.11:g.220286142_220286143delinsAT , CM000664.1:g.220286142_220286143delinsAT	GRCh37
NC_000002.10:g.219994386_219994387delinsAT	NCBI36
NG_008043.1:g.8044_8045delinsAT , LRG_380:g.8044_8045delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1104_1105delinsAT MANE Select	NP_001918.3:p.Arg369Cys
ENST00000373960.4:c.1104_1105delinsAT MANE Select	ENSP00000363071.3:p.Arg369Cys
NM_001382708.1:c.1101_1102delinsAT	NP_001369637.1:p.Arg368Cys
NM_001382709.1:c.736-64_736-63delinsAT	NP_001369638.1:n.736-64_736-63delinsAT
NM_001382710.1:c.1035_1036delinsAT	NP_001369639.1:p.Arg346Cys
NM_001382711.1:c.1083_1084delinsAT	NP_001369640.1:p.Arg362Cys
NM_001382712.1:c.1104_1105delinsAT	NP_001369641.1:p.Arg369Cys
NM_001382713.1:c.834_835delinsAT	NP_001369642.1:p.Arg279Cys
NM_001927.3:c.1104_1105delinsAT , LRG_380t1:c.1104_1105delinsAT	NP_001918.3:p.Arg369Cys
ENST00000373960.3:c.1104_1105delinsAT	ENSP00000363071.3:p.Arg369Cys
ENST00000477226.5:n.576_577delinsAT
ENST00000477226.6:n.578_579delinsAT
ENST00000492726.1:n.499_500delinsAT
ENST00000683013.1:n.492_493delinsAT