Canonical Allele Identifier: CA1202689850
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306890_161306898delinsATGTAGGGT , CM000663.2:g.161306890_161306898delinsATGTAGGGT GRCh38
NC_000001.10:g.161276680_161276688delinsATGTAGGGT , CM000663.1:g.161276680_161276688delinsATGTAGGGT GRCh37
NC_000001.9:g.159543304_159543312delinsATGTAGGGT NCBI36
NG_008055.1:g.8075_8083delinsACCCTACAT , LRG_256:g.8075_8083delinsACCCTACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.258_266delinsACCCTACAT ENSP00000488104.2:p.Gln86=
ENST00000533357.5:c.258_266delinsACCCTACAT MANE Select ENSP00000432943.1:p.Gln86=
ENST00000672287.2:c.-331_-323delinsACCCTACAT ENSP00000499818.2:n.-331_-323delinsACCCTACAT
ENST00000672602.2:c.258_266delinsACCCTACAT ENSP00000500814.2:p.Gln86=
ENST00000674861.1:n.321_329delinsACCCTACAT
ENST00000463290.5:c.258_266delinsACCCTACAT ENSP00000431538.1:p.Gln86=
ENST00000491222.5:c.-331_-323delinsACCCTACAT ENSP00000431441.1:n.-331_-323delinsACCCTACAT
ENST00000526189.2:c.2_10delinsACCCTACAT
ENST00000533357.4:c.258_266delinsACCCTACAT ENSP00000432943.1:p.Gln86=
NM_000530.6:c.258_266delinsACCCTACAT , LRG_256t1:c.258_266delinsACCCTACAT NP_000521.2:p.Gln86=
NM_000530.7:c.258_266delinsACCCTACAT NP_000521.2:p.Gln86=
NM_001315491.1:c.258_266delinsACCCTACAT NP_001302420.1:p.Gln86=
XM_017001321.2:c.288_296delinsACCCTACAT XP_016856810.1:p.Gln96=
NM_000530.8:c.258_266delinsACCCTACAT MANE Select NP_000521.2:p.Gln86=
NM_001315491.2:c.258_266delinsACCCTACAT NP_001302420.1:p.Gln86=