Canonical Allele Identifier: CA1329213243

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425988_219425989delinsTA , CM000664.2:g.219425988_219425989delinsTA	GRCh38
NC_000002.11:g.220290710_220290711delinsTA , CM000664.1:g.220290710_220290711delinsTA	GRCh37
NC_000002.10:g.219998954_219998955delinsTA	NCBI36
NG_008043.1:g.12612_12613delinsTA , LRG_380:g.12612_12613delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.885_886delinsTA
ENST00000683013.1:n.799_800delinsTA
ENST00000373960.4:c.1411_1412delinsTA MANE Select	ENSP00000363071.3:p.Ter471=
ENST00000373960.3:c.1411_1412delinsTA	ENSP00000363071.3:p.Ter471=
ENST00000483395.1:n.266_267delinsTA
NM_001927.3:c.1411_1412delinsTA , LRG_380t1:c.1411_1412delinsTA	NP_001918.3:p.Ter471=
NM_001927.4:c.1411_1412delinsTA MANE Select	NP_001918.3:p.Ter471=
NM_001382708.1:c.1408_1409delinsTA	NP_001369637.1:p.Ter470=
NM_001382709.1:c.979_980delinsTA	NP_001369638.1:p.Ter327=
NM_001382710.1:c.1342_1343delinsTA	NP_001369639.1:p.Ter448=
NM_001382711.1:c.1390_1391delinsTA	NP_001369640.1:p.Ter464=
NM_001382712.1:c.1371+243_1371+244delinsTA	NP_001369641.1:n.1371+243_1371+244delinsTA
NM_001382713.1:c.1141_1142delinsTA	NP_001369642.1:p.Ter381=