Canonical Allele Identifier: CA2580061323

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2033565
• ClinVar RCV Id: RCV002872470

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306726_161306731del , CM000663.2:g.161306726_161306731del	GRCh38
NC_000001.10:g.161276516_161276521del , CM000663.1:g.161276516_161276521del	GRCh37
NC_000001.9:g.159543140_159543145del	NCBI36
NG_008055.1:g.8243_8248del , LRG_256:g.8243_8248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+59_367+64del	ENSP00000488104.2:n.367+59_367+64del
ENST00000533357.5:c.426_431del MANE Select	ENSP00000432943.1:p.Thr143_Leu144del
ENST00000672287.2:c.-163_-158del	ENSP00000499818.2:n.-163_-158del
ENST00000672602.2:c.426_431del	ENSP00000500814.2:p.Thr143_Leu144del
ENST00000674861.1:n.489_494del
ENST00000463290.5:c.426_431del	ENSP00000431538.1:p.Thr143_Leu144del
ENST00000491222.5:c.-163_-158del	ENSP00000431441.1:n.-163_-158del
ENST00000526189.2:c.111+59_111+64del
ENST00000533357.4:c.426_431del	ENSP00000432943.1:p.Thr143_Leu144del
NM_000530.6:c.426_431del , LRG_256t1:c.426_431del	NP_000521.2:p.Thr143_Leu144del
NM_000530.7:c.426_431del	NP_000521.2:p.Thr143_Leu144del
NM_001315491.1:c.426_431del	NP_001302420.1:p.Thr143_Leu144del
XM_017001321.2:c.456_461del	XP_016856810.1:p.Thr153_Leu154del
NM_000530.8:c.426_431del MANE Select	NP_000521.2:p.Thr143_Leu144del
NM_001315491.2:c.426_431del	NP_001302420.1:p.Thr143_Leu144del