Canonical Allele Identifier: CA916081392

Gene: DES

Linked Data

• ClinVar Variation Id: 855478
• ClinVar RCV Id: RCV001060758
• dbSNP Id: rs1954382461

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419006_219419017del , CM000664.2:g.219419006_219419017del	GRCh38
NC_000002.11:g.220283728_220283739del , CM000664.1:g.220283728_220283739del	GRCh37
NC_000002.10:g.219991972_219991983del	NCBI36
NG_008043.1:g.5630_5641del , LRG_380:g.5630_5641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.544_555del MANE Select	ENSP00000363071.3:p.Asn182_Asp185del
ENST00000373960.3:c.544_555del	ENSP00000363071.3:p.Asn182_Asp185del
NM_001927.3:c.544_555del , LRG_380t1:c.544_555del	NP_001918.3:p.Asn182_Asp185del
NM_001927.4:c.544_555del MANE Select	NP_001918.3:p.Asn182_Asp185del
NM_001382708.1:c.544_555del	NP_001369637.1:p.Asn182_Asp185del
NM_001382709.1:c.544_555del	NP_001369638.1:p.Asn182_Asp185del
NM_001382710.1:c.544_555del	NP_001369639.1:p.Asn182_Asp185del
NM_001382711.1:c.544_555del	NP_001369640.1:p.Asn182_Asp185del
NM_001382712.1:c.544_555del	NP_001369641.1:p.Asn182_Asp185del
NM_001382713.1:c.495+49_495+60del	NP_001369642.1:n.495+49_495+60del