Canonical Allele Identifier: CA1329211343

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421538_219421539delinsCT , CM000664.2:g.219421538_219421539delinsCT	GRCh38
NC_000002.11:g.220286260_220286261delinsCT , CM000664.1:g.220286260_220286261delinsCT	GRCh37
NC_000002.10:g.219994504_219994505delinsCT	NCBI36
NG_008043.1:g.8162_8163delinsCT , LRG_380:g.8162_8163delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.696_697delinsCT
ENST00000683013.1:n.610_611delinsCT
ENST00000373960.4:c.1222_1223delinsCT MANE Select	ENSP00000363071.3:p.Leu408=
ENST00000373960.3:c.1222_1223delinsCT	ENSP00000363071.3:p.Leu408=
ENST00000477226.5:n.694_695delinsCT
ENST00000492726.1:n.617_618delinsCT
NM_001927.3:c.1222_1223delinsCT , LRG_380t1:c.1222_1223delinsCT	NP_001918.3:p.Leu408=
NM_001927.4:c.1222_1223delinsCT MANE Select	NP_001918.3:p.Leu408=
NM_001382708.1:c.1219_1220delinsCT	NP_001369637.1:p.Leu407=
NM_001382709.1:c.790_791delinsCT	NP_001369638.1:p.Leu264=
NM_001382710.1:c.1153_1154delinsCT	NP_001369639.1:p.Leu385=
NM_001382711.1:c.1201_1202delinsCT	NP_001369640.1:p.Leu401=
NM_001382712.1:c.1222_1223delinsCT	NP_001369641.1:p.Leu408=
NM_001382713.1:c.952_953delinsCT	NP_001369642.1:p.Leu318=