Canonical Allele Identifier: CA1329210242

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419185_219419187delinsCTG , CM000664.2:g.219419185_219419187delinsCTG	GRCh38
NC_000002.11:g.220283907_220283909delinsCTG , CM000664.1:g.220283907_220283909delinsCTG	GRCh37
NC_000002.10:g.219992151_219992153delinsCTG	NCBI36
NG_008043.1:g.5809_5811delinsCTG , LRG_380:g.5809_5811delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+145_578+147delinsCTG MANE Select	ENSP00000363071.3:n.578+145_578+147delinsCTG
ENST00000373960.3:c.578+145_578+147delinsCTG	ENSP00000363071.3:n.578+145_578+147delinsCTG
NM_001927.3:c.578+145_578+147delinsCTG , LRG_380t1:c.578+145_578+147delinsCTG	NP_001918.3:n.578+145_578+147delinsCTG
NM_001927.4:c.578+145_578+147delinsCTG MANE Select	NP_001918.3:n.578+145_578+147delinsCTG
NM_001382708.1:c.578+145_578+147delinsCTG	NP_001369637.1:n.578+145_578+147delinsCTG
NM_001382709.1:c.578+145_578+147delinsCTG	NP_001369638.1:n.578+145_578+147delinsCTG
NM_001382710.1:c.578+145_578+147delinsCTG	NP_001369639.1:n.578+145_578+147delinsCTG
NM_001382711.1:c.578+145_578+147delinsCTG	NP_001369640.1:n.578+145_578+147delinsCTG
NM_001382712.1:c.578+145_578+147delinsCTG	NP_001369641.1:n.578+145_578+147delinsCTG
NM_001382713.1:c.495+228_495+230delinsCTG	NP_001369642.1:n.495+228_495+230delinsCTG