Canonical Allele Identifier: CA16617017
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 422047
ClinVar RCV Id: RCV000478795
dbSNP Id: rs1064795521
MyVariant Identifiers: chr1:g.161279670del (hg19) chr1:g.161309880del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161309880del , CM000663.2:g.161309880del GRCh38
NC_000001.10:g.161279670del , CM000663.1:g.161279670del GRCh37
NC_000001.9:g.159546294del NCBI36
NG_008055.1:g.5093del , LRG_256:g.5093del
NG_012767.1:g.505del , LRG_317:g.505del

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.26del ENSP00000488104.2:p.Ser9ThrfsTer?
ENST00000533357.5:c.26del MANE Select ENSP00000432943.1:p.Ser9ThrfsTer?
ENST00000672602.2:c.26del ENSP00000500814.2:p.Ser9ThrfsTer?
ENST00000674861.1:n.89del
ENST00000463290.5:c.26del ENSP00000431538.1:p.Ser9ThrfsTer?
ENST00000533357.4:c.26del ENSP00000432943.1:p.Ser9ThrfsTer?
NM_000530.6:c.26del , LRG_256t1:c.26del NP_000521.2:p.Ser9ThrfsTer?
NM_000530.7:c.26del NP_000521.2:p.Ser9ThrfsTer?
NM_001315491.1:c.26del NP_001302420.1:p.Ser9ThrfsTer?
XM_017001321.2:c.56del XP_016856810.1:p.Ser19ThrfsTer?
NM_000530.8:c.26del MANE Select NP_000521.2:p.Ser9ThrfsTer?
NM_001315491.2:c.26del NP_001302420.1:p.Ser9ThrfsTer?
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