Canonical Allele Identifier: CA2648773415

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306652-TCCCTGATCCCCTCCCAAACTGCTTCCCATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306657_161306686del , CM000663.2:g.161306657_161306686del	GRCh38
NC_000001.10:g.161276447_161276476del , CM000663.1:g.161276447_161276476del	GRCh37
NC_000001.9:g.159543071_159543100del	NCBI36
NG_008055.1:g.8291_8320del , LRG_256:g.8291_8320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+107_367+136del	ENSP00000488104.2:n.367+107_367+136del
ENST00000533357.5:c.448+26_448+55del MANE Select	ENSP00000432943.1:n.448+26_448+55del
ENST00000672287.2:c.-141+26_-141+55del	ENSP00000499818.2:n.-141+26_-141+55del
ENST00000672602.2:c.448+26_448+55del	ENSP00000500814.2:n.448+26_448+55del
ENST00000674861.1:n.511+26_511+55del
ENST00000463290.5:c.448+26_448+55del	ENSP00000431538.1:n.448+26_448+55del
ENST00000491222.5:c.-141+26_-141+55del	ENSP00000431441.1:n.-141+26_-141+55del
ENST00000526189.2:c.111+107_111+136del
ENST00000533357.4:c.448+26_448+55del	ENSP00000432943.1:n.448+26_448+55del
NM_000530.6:c.448+26_448+55del , LRG_256t1:c.448+26_448+55del	NP_000521.2:n.448+26_448+55del
NM_000530.7:c.448+26_448+55del	NP_000521.2:n.448+26_448+55del
NM_001315491.1:c.448+26_448+55del	NP_001302420.1:n.448+26_448+55del
XM_017001321.2:c.478+26_478+55del	XP_016856810.1:n.478+26_478+55del
NM_000530.8:c.448+26_448+55del MANE Select	NP_000521.2:n.448+26_448+55del
NM_001315491.2:c.448+26_448+55del	NP_001302420.1:n.448+26_448+55del