Canonical Allele Identifier: CA2586971387

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425975_219425976delinsTT , CM000664.2:g.219425975_219425976delinsTT	GRCh38
NC_000002.11:g.220290697_220290698delinsTT , CM000664.1:g.220290697_220290698delinsTT	GRCh37
NC_000002.10:g.219998941_219998942delinsTT	NCBI36
NG_008043.1:g.12599_12600delinsTT , LRG_380:g.12599_12600delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.872_873delinsTT
ENST00000683013.1:n.786_787delinsTT
ENST00000373960.4:c.1398_1399delinsTT MANE Select	ENSP00000363071.3:p.Gln466_His467delinsHisTyr
ENST00000373960.3:c.1398_1399delinsTT	ENSP00000363071.3:p.Gln466_His467delinsHisTyr
ENST00000483395.1:n.253_254delinsTT
NM_001927.3:c.1398_1399delinsTT , LRG_380t1:c.1398_1399delinsTT	NP_001918.3:p.Gln466_His467delinsHisTyr
NM_001927.4:c.1398_1399delinsTT MANE Select	NP_001918.3:p.Gln466_His467delinsHisTyr
NM_001382708.1:c.1395_1396delinsTT	NP_001369637.1:p.Gln465_His466delinsHisTyr
NM_001382709.1:c.966_967delinsTT	NP_001369638.1:p.Gln322_His323delinsHisTyr
NM_001382710.1:c.1329_1330delinsTT	NP_001369639.1:p.Gln443_His444delinsHisTyr
NM_001382711.1:c.1377_1378delinsTT	NP_001369640.1:p.Gln459_His460delinsHisTyr
NM_001382712.1:c.1371+230_1371+231delinsTT	NP_001369641.1:n.1371+230_1371+231delinsTT
NM_001382713.1:c.1128_1129delinsTT	NP_001369642.1:p.Gln376_His377delinsHisTyr