Canonical Allele Identifier: CA1329211358

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421561G= , CM000664.2:g.219421561G=	GRCh38
NC_000002.11:g.220286283G= , CM000664.1:g.220286283G=	GRCh37
NC_000002.10:g.219994527G=	NCBI36
NG_008043.1:g.8185G= , LRG_380:g.8185G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+1G=
ENST00000683013.1:n.632+1G=
ENST00000373960.4:c.1244+1G= MANE Select	ENSP00000363071.3:n.1244+1G=
ENST00000373960.3:c.1244+1G=	ENSP00000363071.3:n.1244+1G=
ENST00000477226.5:n.716+1G=
ENST00000492726.1:n.639+1G=
NM_001927.3:c.1244+1G= , LRG_380t1:c.1244+1G=	NP_001918.3:n.1244+1G=
NM_001927.4:c.1244+1G= MANE Select	NP_001918.3:n.1244+1G=
NM_001382708.1:c.1241+1G=	NP_001369637.1:n.1241+1G=
NM_001382709.1:c.812+1G=	NP_001369638.1:n.812+1G=
NM_001382710.1:c.1175+1G=	NP_001369639.1:n.1175+1G=
NM_001382711.1:c.1223+1G=	NP_001369640.1:n.1223+1G=
NM_001382712.1:c.1244+1G=	NP_001369641.1:n.1244+1G=
NM_001382713.1:c.974+1G=	NP_001369642.1:n.974+1G=