Canonical Allele Identifier: CA1329213224

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425945C= , CM000664.2:g.219425945C=	GRCh38
NC_000002.11:g.220290667C= , CM000664.1:g.220290667C=	GRCh37
NC_000002.10:g.219998911C=	NCBI36
NG_008043.1:g.12569C= , LRG_380:g.12569C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-4C=
ENST00000683013.1:n.760-4C=
ENST00000373960.4:c.1372-4C= MANE Select	ENSP00000363071.3:n.1372-4C=
ENST00000373960.3:c.1372-4C=	ENSP00000363071.3:n.1372-4C=
ENST00000483395.1:n.227-4C=
NM_001927.3:c.1372-4C= , LRG_380t1:c.1372-4C=	NP_001918.3:n.1372-4C=
NM_001927.4:c.1372-4C= MANE Select	NP_001918.3:n.1372-4C=
NM_001382708.1:c.1369-4C=	NP_001369637.1:n.1369-4C=
NM_001382709.1:c.940-4C=	NP_001369638.1:n.940-4C=
NM_001382710.1:c.1303-4C=	NP_001369639.1:n.1303-4C=
NM_001382711.1:c.1351-4C=	NP_001369640.1:n.1351-4C=
NM_001382712.1:c.1371+200C=	NP_001369641.1:n.1371+200C=
NM_001382713.1:c.1102-4C=	NP_001369642.1:n.1102-4C=