Canonical Allele Identifier: CA2663248650

Gene: DES

Linked Data

• gnomAD v4: 2-219418501-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418502del , CM000664.2:g.219418502del	GRCh38
NC_000002.11:g.220283224del , CM000664.1:g.220283224del	GRCh37
NC_000002.10:g.219991468del	NCBI36
NG_008043.1:g.5126del , LRG_380:g.5126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.40del MANE Select	ENSP00000363071.3:p.Tyr14ThrfsTer17
ENST00000373960.3:c.40del	ENSP00000363071.3:p.Tyr14ThrfsTer17
NM_001927.3:c.40del , LRG_380t1:c.40del	NP_001918.3:p.Tyr14ThrfsTer17
NM_001927.4:c.40del MANE Select	NP_001918.3:p.Tyr14ThrfsTer17
NM_001382708.1:c.40del	NP_001369637.1:p.Tyr14ThrfsTer17
NM_001382709.1:c.40del	NP_001369638.1:p.Tyr14ThrfsTer17
NM_001382710.1:c.40del	NP_001369639.1:p.Tyr14ThrfsTer17
NM_001382711.1:c.40del	NP_001369640.1:p.Tyr14ThrfsTer17
NM_001382712.1:c.40del	NP_001369641.1:p.Tyr14ThrfsTer17
NM_001382713.1:c.40del	NP_001369642.1:p.Tyr14ThrfsTer17