Canonical Allele Identifier: CA2739275378

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2841808
• ClinVar RCV Id: RCV003742058

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306739_161306741del , CM000663.2:g.161306739_161306741del	GRCh38
NC_000001.10:g.161276529_161276531del , CM000663.1:g.161276529_161276531del	GRCh37
NC_000001.9:g.159543153_159543155del	NCBI36
NG_008055.1:g.8232_8234del , LRG_256:g.8232_8234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+48_367+50del	ENSP00000488104.2:n.367+48_367+50del
ENST00000533357.5:c.415_417del MANE Select	ENSP00000432943.1:p.Thr139del
ENST00000672287.2:c.-174_-172del	ENSP00000499818.2:n.-174_-172del
ENST00000672602.2:c.415_417del	ENSP00000500814.2:p.Thr139del
ENST00000674861.1:n.478_480del
ENST00000463290.5:c.415_417del	ENSP00000431538.1:p.Thr139del
ENST00000491222.5:c.-174_-172del	ENSP00000431441.1:n.-174_-172del
ENST00000526189.2:c.111+48_111+50del
ENST00000533357.4:c.415_417del	ENSP00000432943.1:p.Thr139del
NM_000530.6:c.415_417del , LRG_256t1:c.415_417del	NP_000521.2:p.Thr139del
NM_000530.7:c.415_417del	NP_000521.2:p.Thr139del
NM_001315491.1:c.415_417del	NP_001302420.1:p.Thr139del
XM_017001321.2:c.445_447del	XP_016856810.1:p.Thr149del
NM_000530.8:c.415_417del MANE Select	NP_000521.2:p.Thr139del
NM_001315491.2:c.415_417del	NP_001302420.1:p.Thr139del