Canonical Allele Identifier: CA2605215824

Gene: MPZ

Linked Data

• dbSNP Id: rs2102258475
• gnomAD v3: 1-161306557-ACTCCCAGCTAAAACTGCCTTC-A
• gnomAD v4: 1-161306557-ACTCCCAGCTAAAACTGCCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306558_161306578del , CM000663.2:g.161306558_161306578del	GRCh38
NC_000001.10:g.161276348_161276368del , CM000663.1:g.161276348_161276368del	GRCh37
NC_000001.9:g.159542972_159542992del	NCBI36
NG_008055.1:g.8395_8415del , LRG_256:g.8395_8415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.368-114_368-94del	ENSP00000488104.2:n.368-114_368-94del
ENST00000533357.5:c.449-114_449-94del MANE Select	ENSP00000432943.1:n.449-114_449-94del
ENST00000672287.2:c.-140-114_-140-94del	ENSP00000499818.2:n.-140-114_-140-94del
ENST00000672602.2:c.449-114_449-94del	ENSP00000500814.2:n.449-114_449-94del
ENST00000674861.1:n.512-114_512-94del
ENST00000463290.5:c.449-114_449-94del	ENSP00000431538.1:n.449-114_449-94del
ENST00000491222.5:c.-140-114_-140-94del	ENSP00000431441.1:n.-140-114_-140-94del
ENST00000526189.2:c.112-114_112-94del
ENST00000533357.4:c.449-114_449-94del	ENSP00000432943.1:n.449-114_449-94del
NM_000530.6:c.449-114_449-94del , LRG_256t1:c.449-114_449-94del	NP_000521.2:n.449-114_449-94del
NM_000530.7:c.449-114_449-94del	NP_000521.2:n.449-114_449-94del
NM_001315491.1:c.449-114_449-94del	NP_001302420.1:n.449-114_449-94del
XM_017001321.2:c.479-114_479-94del	XP_016856810.1:n.479-114_479-94del
NM_000530.8:c.449-114_449-94del MANE Select	NP_000521.2:n.449-114_449-94del
NM_001315491.2:c.449-114_449-94del	NP_001302420.1:n.449-114_449-94del