Canonical Allele Identifier: CA2511289613

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421490_219421491insGCT , CM000664.2:g.219421490_219421491insGCT	GRCh38
NC_000002.11:g.220286212_220286213insGCT , CM000664.1:g.220286212_220286213insGCT	GRCh37
NC_000002.10:g.219994456_219994457insGCT	NCBI36
NG_008043.1:g.8114_8115insGCT , LRG_380:g.8114_8115insGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.648_649insGCT
ENST00000683013.1:n.562_563insGCT
ENST00000373960.4:c.1174_1175insGCT MANE Select	ENSP00000363071.3:p.Leu392delinsArgPhe
ENST00000373960.3:c.1174_1175insGCT	ENSP00000363071.3:p.Leu392delinsArgPhe
ENST00000477226.5:n.646_647insGCT
ENST00000492726.1:n.569_570insGCT
NM_001927.3:c.1174_1175insGCT , LRG_380t1:c.1174_1175insGCT	NP_001918.3:p.Leu392delinsArgPhe
NM_001927.4:c.1174_1175insGCT MANE Select	NP_001918.3:p.Leu392delinsArgPhe
NM_001382708.1:c.1171_1172insGCT	NP_001369637.1:p.Leu391delinsArgPhe
NM_001382709.1:c.742_743insGCT	NP_001369638.1:p.Leu248delinsArgPhe
NM_001382710.1:c.1105_1106insGCT	NP_001369639.1:p.Leu369delinsArgPhe
NM_001382711.1:c.1153_1154insGCT	NP_001369640.1:p.Leu385delinsArgPhe
NM_001382712.1:c.1174_1175insGCT	NP_001369641.1:p.Leu392delinsArgPhe
NM_001382713.1:c.904_905insGCT	NP_001369642.1:p.Leu302delinsArgPhe