Canonical Allele Identifier: CA1008408946

Gene: MPZ

Linked Data

• dbSNP Id: rs1670254594
• gnomAD v3: 1-161306593-GAGCCTGAATAA-G
• gnomAD v4: 1-161306593-GAGCCTGAATAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306596_161306606del , CM000663.2:g.161306596_161306606del	GRCh38
NC_000001.10:g.161276386_161276396del , CM000663.1:g.161276386_161276396del	GRCh37
NC_000001.9:g.159543010_159543020del	NCBI36
NG_008055.1:g.8369_8379del , LRG_256:g.8369_8379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.368-140_368-130del	ENSP00000488104.2:n.368-140_368-130del
ENST00000533357.5:c.448+104_448+114del MANE Select	ENSP00000432943.1:n.448+104_448+114del
ENST00000672287.2:c.-141+104_-141+114del	ENSP00000499818.2:n.-141+104_-141+114del
ENST00000672602.2:c.448+104_448+114del	ENSP00000500814.2:n.448+104_448+114del
ENST00000674861.1:n.511+104_511+114del
ENST00000463290.5:c.448+104_448+114del	ENSP00000431538.1:n.448+104_448+114del
ENST00000491222.5:c.-141+104_-141+114del	ENSP00000431441.1:n.-141+104_-141+114del
ENST00000526189.2:c.112-140_112-130del
ENST00000533357.4:c.448+104_448+114del	ENSP00000432943.1:n.448+104_448+114del
NM_000530.6:c.448+104_448+114del , LRG_256t1:c.448+104_448+114del	NP_000521.2:n.448+104_448+114del
NM_000530.7:c.448+104_448+114del	NP_000521.2:n.448+104_448+114del
NM_001315491.1:c.448+104_448+114del	NP_001302420.1:n.448+104_448+114del
XM_017001321.2:c.478+104_478+114del	XP_016856810.1:n.478+104_478+114del
NM_000530.8:c.448+104_448+114del MANE Select	NP_000521.2:n.448+104_448+114del
NM_001315491.2:c.448+104_448+114del	NP_001302420.1:n.448+104_448+114del