Canonical Allele Identifier: CA1202690405
Gene: MPZ HGNC NCBI

Linked Data

dbSNP Id: rs1670281708

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307226del , CM000663.2:g.161307226del GRCh38
NC_000001.10:g.161277016del , CM000663.1:g.161277016del GRCh37
NC_000001.9:g.159543640del NCBI36
NG_008055.1:g.7748del , LRG_256:g.7748del

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.234+33del ENSP00000488104.2:n.234+33del
ENST00000533357.5:c.234+33del MANE Select ENSP00000432943.1:n.234+33del
ENST00000672287.2:c.-355+33del ENSP00000499818.2:n.-355+33del
ENST00000672602.2:c.234+33del ENSP00000500814.2:n.234+33del
ENST00000674861.1:n.297+33del
ENST00000463290.5:c.234+33del ENSP00000431538.1:n.234+33del
ENST00000491222.5:c.-355+33del ENSP00000431441.1:n.-355+33del
ENST00000533357.4:c.234+33del ENSP00000432943.1:n.234+33del
NM_000530.6:c.234+33del , LRG_256t1:c.234+33del NP_000521.2:n.234+33del
NM_000530.7:c.234+33del NP_000521.2:n.234+33del
NM_001315491.1:c.234+33del NP_001302420.1:n.234+33del
XM_017001321.2:c.264+33del XP_016856810.1:n.264+33del
NM_000530.8:c.234+33del MANE Select NP_000521.2:n.234+33del
NM_001315491.2:c.234+33del NP_001302420.1:n.234+33del