Canonical Allele Identifier: CA1329210268

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419225_219419226delinsCT , CM000664.2:g.219419225_219419226delinsCT	GRCh38
NC_000002.11:g.220283947_220283948delinsCT , CM000664.1:g.220283947_220283948delinsCT	GRCh37
NC_000002.10:g.219992191_219992192delinsCT	NCBI36
NG_008043.1:g.5849_5850delinsCT , LRG_380:g.5849_5850delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+185_578+186delinsCT MANE Select	ENSP00000363071.3:n.578+185_578+186delinsCT
ENST00000373960.3:c.578+185_578+186delinsCT	ENSP00000363071.3:n.578+185_578+186delinsCT
NM_001927.3:c.578+185_578+186delinsCT , LRG_380t1:c.578+185_578+186delinsCT	NP_001918.3:n.578+185_578+186delinsCT
NM_001927.4:c.578+185_578+186delinsCT MANE Select	NP_001918.3:n.578+185_578+186delinsCT
NM_001382708.1:c.578+185_578+186delinsCT	NP_001369637.1:n.578+185_578+186delinsCT
NM_001382709.1:c.578+185_578+186delinsCT	NP_001369638.1:n.578+185_578+186delinsCT
NM_001382710.1:c.578+185_578+186delinsCT	NP_001369639.1:n.578+185_578+186delinsCT
NM_001382711.1:c.578+185_578+186delinsCT	NP_001369640.1:n.578+185_578+186delinsCT
NM_001382712.1:c.578+185_578+186delinsCT	NP_001369641.1:n.578+185_578+186delinsCT
NM_001382713.1:c.495+268_495+269delinsCT	NP_001369642.1:n.495+268_495+269delinsCT