Canonical Allele Identifier: CA004800
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 44852
ClinVar RCV Id: RCV002513491 RCV003531928
dbSNP Id: rs397516913
MyVariant Identifiers: chr6:g.7568019del (hg19) chr6:g.7567786del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567786del , CM000668.2:g.7567786del GRCh38
NC_000006.11:g.7568019del , CM000668.1:g.7568019del GRCh37
NC_000006.10:g.7513018del NCBI36
NG_008803.1:g.31150del , LRG_423:g.31150del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1146del ENSP00000518230.1:p.Phe382LeufsTer11
ENST00000682228.1:n.801del
ENST00000379802.8:c.1146del MANE Select ENSP00000369129.3:p.Phe382LeufsTer11
ENST00000379802.7:c.1146del ENSP00000369129.3:p.Phe382LeufsTer11
ENST00000418664.2:c.1146del ENSP00000396591.2:p.Phe382LeufsTer11
NM_001008844.1:c.1146del NP_001008844.1:p.Phe382LeufsTer11
NM_004415.2:c.1146del , LRG_423t1:c.1146del NP_004406.2:p.Phe382LeufsTer11
XM_011514323.1:c.1146del XP_011512625.1:p.Phe382LeufsTer11
NM_001008844.2:c.1146del NP_001008844.1:p.Phe382LeufsTer11
NM_001319034.1:c.1146del NP_001305963.1:p.Phe382LeufsTer11
NM_004415.3:c.1146del NP_004406.2:p.Phe382LeufsTer11
NM_004415.4:c.1146del MANE Select NP_004406.2:p.Phe382LeufsTer11
NM_001008844.3:c.1146del NP_001008844.1:p.Phe382LeufsTer11
NM_001319034.2:c.1146del NP_001305963.1:p.Phe382LeufsTer11
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