Canonical Allele Identifier: CA1329210934

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420668C= , CM000664.2:g.219420668C=	GRCh38
NC_000002.11:g.220285390C= , CM000664.1:g.220285390C=	GRCh37
NC_000002.10:g.219993634C=	NCBI36
NG_008043.1:g.7292C= , LRG_380:g.7292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.371+12C=
ENST00000683013.1:n.285+12C=
ENST00000373960.4:c.897+12C= MANE Select	ENSP00000363071.3:n.897+12C=
ENST00000373960.3:c.897+12C=	ENSP00000363071.3:n.897+12C=
ENST00000477226.5:n.369+12C=
ENST00000492726.1:n.292+12C=
NM_001927.3:c.897+12C= , LRG_380t1:c.897+12C=	NP_001918.3:n.897+12C=
NM_001927.4:c.897+12C= MANE Select	NP_001918.3:n.897+12C=
NM_001382708.1:c.894+12C=	NP_001369637.1:n.894+12C=
NM_001382709.1:c.735+322C=	NP_001369638.1:n.735+322C=
NM_001382710.1:c.897+12C=	NP_001369639.1:n.897+12C=
NM_001382711.1:c.897+12C=	NP_001369640.1:n.897+12C=
NM_001382712.1:c.897+12C=	NP_001369641.1:n.897+12C=
NM_001382713.1:c.627+12C=	NP_001369642.1:n.627+12C=