Canonical Allele Identifier: CA2663250435

Gene: DES

Linked Data

• gnomAD v4: 2-219418979-CGCGCGCGCGTCGACGTCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418985_219419003del , CM000664.2:g.219418985_219419003del	GRCh38
NC_000002.11:g.220283707_220283725del , CM000664.1:g.220283707_220283725del	GRCh37
NC_000002.10:g.219991951_219991969del	NCBI36
NG_008043.1:g.5609_5627del , LRG_380:g.5609_5627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.523_541del MANE Select	ENSP00000363071.3:p.Arg175ThrfsTer20
ENST00000373960.3:c.523_541del	ENSP00000363071.3:p.Arg175ThrfsTer20
NM_001927.3:c.523_541del , LRG_380t1:c.523_541del	NP_001918.3:p.Arg175ThrfsTer20
NM_001927.4:c.523_541del MANE Select	NP_001918.3:p.Arg175ThrfsTer20
NM_001382708.1:c.523_541del	NP_001369637.1:p.Arg175ThrfsTer20
NM_001382709.1:c.523_541del	NP_001369638.1:p.Arg175ThrfsTer20
NM_001382710.1:c.523_541del	NP_001369639.1:p.Arg175ThrfsTer20
NM_001382711.1:c.523_541del	NP_001369640.1:p.Arg175ThrfsTer20
NM_001382712.1:c.523_541del	NP_001369641.1:p.Arg175ThrfsTer20
NM_001382713.1:c.495+28_495+46del	NP_001369642.1:n.495+28_495+46del