Canonical Allele Identifier: CA007160
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 180181
ClinVar RCV Id: RCV000157033 RCV000498058
dbSNP Id: rs730880024
MyVariant Identifiers: chr6:g.7584743del (hg19) chr6:g.7584510del (hg38)
PubMed: PMID:20613772
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584510del , CM000668.2:g.7584510del GRCh38
NC_000006.11:g.7584743del , CM000668.1:g.7584743del GRCh37
NC_000006.10:g.7529742del NCBI36
NG_008803.1:g.47874del , LRG_423:g.47874del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5919del ENSP00000518230.1:p.Phe1973LeufsTer14
ENST00000379802.8:c.7248del MANE Select ENSP00000369129.3:p.Phe2416LeufsTer14
ENST00000379802.7:c.7248del ENSP00000369129.3:p.Phe2416LeufsTer14
ENST00000418664.2:c.5451del ENSP00000396591.2:p.Phe1817LeufsTer14
NM_001008844.1:c.5451del NP_001008844.1:p.Phe1817LeufsTer14
NM_004415.2:c.7248del , LRG_423t1:c.7248del NP_004406.2:p.Phe2416LeufsTer14
XM_011514323.1:c.5919del XP_011512625.1:p.Phe1973LeufsTer14
NM_001008844.2:c.5451del NP_001008844.1:p.Phe1817LeufsTer14
NM_001319034.1:c.5919del NP_001305963.1:p.Phe1973LeufsTer14
NM_004415.3:c.7248del NP_004406.2:p.Phe2416LeufsTer14
NM_004415.4:c.7248del MANE Select NP_004406.2:p.Phe2416LeufsTer14
NM_001008844.3:c.5451del NP_001008844.1:p.Phe1817LeufsTer14
NM_001319034.2:c.5919del NP_001305963.1:p.Phe1973LeufsTer14
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