Canonical Allele Identifier: CA2580065795

Gene: DES

Linked Data

• ClinVar Variation Id: 2018022
• ClinVar RCV Id: RCV002835374

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419006_219419020del , CM000664.2:g.219419006_219419020del	GRCh38
NC_000002.11:g.220283728_220283742del , CM000664.1:g.220283728_220283742del	GRCh37
NC_000002.10:g.219991972_219991986del	NCBI36
NG_008043.1:g.5630_5644del , LRG_380:g.5630_5644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.544_558del MANE Select	ENSP00000363071.3:p.Asn182_Asp186del
ENST00000373960.3:c.544_558del	ENSP00000363071.3:p.Asn182_Asp186del
NM_001927.3:c.544_558del , LRG_380t1:c.544_558del	NP_001918.3:p.Asn182_Asp186del
NM_001927.4:c.544_558del MANE Select	NP_001918.3:p.Asn182_Asp186del
NM_001382708.1:c.544_558del	NP_001369637.1:p.Asn182_Asp186del
NM_001382709.1:c.544_558del	NP_001369638.1:p.Asn182_Asp186del
NM_001382710.1:c.544_558del	NP_001369639.1:p.Asn182_Asp186del
NM_001382711.1:c.544_558del	NP_001369640.1:p.Asn182_Asp186del
NM_001382712.1:c.544_558del	NP_001369641.1:p.Asn182_Asp186del
NM_001382713.1:c.495+49_495+63del	NP_001369642.1:n.495+49_495+63del