Canonical Allele Identifier: CA343903
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 41019
ClinVar RCV Id: RCV000033916 RCV000789496 RCV001705641 RCV001852684 RCV002277116
dbSNP Id: rs281865125
MyVariant Identifiers: chr1:g.161276640del (hg19) chr1:g.161306850del (hg38)
PubMed: PMID:20301384
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306850del , CM000663.2:g.161306850del GRCh38
NC_000001.10:g.161276640del , CM000663.1:g.161276640del GRCh37
NC_000001.9:g.159543264del NCBI36
NG_008055.1:g.8123del , LRG_256:g.8123del

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.306del ENSP00000488104.2:p.Asp104ThrfsTer14
ENST00000533357.5:c.306del MANE Select ENSP00000432943.1:p.Asp104ThrfsTer14
ENST00000672287.2:c.-283del ENSP00000499818.2:n.-283del
ENST00000672602.2:c.306del ENSP00000500814.2:p.Asp104ThrfsTer14
ENST00000674861.1:n.369del
ENST00000463290.5:c.306del ENSP00000431538.1:p.Asp104ThrfsTer14
ENST00000491222.5:c.-283del ENSP00000431441.1:n.-283del
ENST00000526189.2:c.50del
ENST00000533357.4:c.306del ENSP00000432943.1:p.Asp104ThrfsTer14
NM_000530.6:c.306del , LRG_256t1:c.306del NP_000521.2:p.Asp104ThrfsTer14
NM_000530.7:c.306del NP_000521.2:p.Asp104ThrfsTer14
NM_001315491.1:c.306del NP_001302420.1:p.Asp104ThrfsTer14
XM_017001321.2:c.336del XP_016856810.1:p.Asp114ThrfsTer14
NM_000530.8:c.306del MANE Select NP_000521.2:p.Asp104ThrfsTer14
NM_001315491.2:c.306del NP_001302420.1:p.Asp104ThrfsTer14
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