Canonical Allele Identifier: CA1329211138

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421140C= , CM000664.2:g.219421140C=	GRCh38
NC_000002.11:g.220285862C= , CM000664.1:g.220285862C=	GRCh37
NC_000002.10:g.219994106C=	NCBI36
NG_008043.1:g.7764C= , LRG_380:g.7764C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.497+187C=
ENST00000683013.1:n.411+187C=
ENST00000373960.4:c.1023+187C= MANE Select	ENSP00000363071.3:n.1023+187C=
ENST00000373960.3:c.1023+187C=	ENSP00000363071.3:n.1023+187C=
ENST00000477226.5:n.495+187C=
ENST00000492726.1:n.418+187C=
NM_001927.3:c.1023+187C= , LRG_380t1:c.1023+187C=	NP_001918.3:n.1023+187C=
NM_001927.4:c.1023+187C= MANE Select	NP_001918.3:n.1023+187C=
NM_001382708.1:c.1020+187C=	NP_001369637.1:n.1020+187C=
NM_001382709.1:c.736-344C=	NP_001369638.1:n.736-344C=
NM_001382710.1:c.1023+187C=	NP_001369639.1:n.1023+187C=
NM_001382711.1:c.1023+187C=	NP_001369640.1:n.1023+187C=
NM_001382712.1:c.1023+187C=	NP_001369641.1:n.1023+187C=
NM_001382713.1:c.753+187C=	NP_001369642.1:n.753+187C=