Canonical Allele Identifier: CA915943875

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637351
• ClinVar RCV Id: RCV000789475
• dbSNP Id: rs1553259792

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307343_161307345del , CM000663.2:g.161307343_161307345del	GRCh38
NC_000001.10:g.161277133_161277135del , CM000663.1:g.161277133_161277135del	GRCh37
NC_000001.9:g.159543757_159543759del	NCBI36
NG_008055.1:g.7630_7632del , LRG_256:g.7630_7632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.149_151del	ENSP00000488104.2:p.Cys50del
ENST00000533357.5:c.149_151del MANE Select	ENSP00000432943.1:p.Cys50del
ENST00000672287.2:c.-440_-438del	ENSP00000499818.2:n.-440_-438del
ENST00000672602.2:c.149_151del	ENSP00000500814.2:p.Cys50del
ENST00000674861.1:n.212_214del
ENST00000463290.5:c.149_151del	ENSP00000431538.1:p.Cys50del
ENST00000491222.5:c.-440_-438del	ENSP00000431441.1:n.-440_-438del
ENST00000533357.4:c.149_151del	ENSP00000432943.1:p.Cys50del
NM_000530.6:c.149_151del , LRG_256t1:c.149_151del	NP_000521.2:p.Cys50del
NM_000530.7:c.149_151del	NP_000521.2:p.Cys50del
NM_001315491.1:c.149_151del	NP_001302420.1:p.Cys50del
XM_017001321.2:c.179_181del	XP_016856810.1:p.Cys60del
NM_000530.8:c.149_151del MANE Select	NP_000521.2:p.Cys50del
NM_001315491.2:c.149_151del	NP_001302420.1:p.Cys50del