Canonical Allele Identifier: CA915943868

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637795
• ClinVar RCV Id: RCV000790112
• dbSNP Id: rs1571818797

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306760_161306761del , CM000663.2:g.161306760_161306761del	GRCh38
NC_000001.10:g.161276550_161276551del , CM000663.1:g.161276550_161276551del	GRCh37
NC_000001.9:g.159543174_159543175del	NCBI36
NG_008055.1:g.8213_8214del , LRG_256:g.8213_8214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+29_367+30del	ENSP00000488104.2:n.367+29_367+30del
ENST00000533357.5:c.396_397del MANE Select	ENSP00000432943.1:p.Pro133ArgfsTer15
ENST00000672287.2:c.-193_-192del	ENSP00000499818.2:n.-193_-192del
ENST00000672602.2:c.396_397del	ENSP00000500814.2:p.Pro133ArgfsTer15
ENST00000674861.1:n.459_460del
ENST00000463290.5:c.396_397del	ENSP00000431538.1:p.Pro133ArgfsTer15
ENST00000491222.5:c.-193_-192del	ENSP00000431441.1:n.-193_-192del
ENST00000526189.2:c.111+29_111+30del
ENST00000533357.4:c.396_397del	ENSP00000432943.1:p.Pro133ArgfsTer15
NM_000530.6:c.396_397del , LRG_256t1:c.396_397del	NP_000521.2:p.Pro133ArgfsTer15
NM_000530.7:c.396_397del	NP_000521.2:p.Pro133ArgfsTer15
NM_001315491.1:c.396_397del	NP_001302420.1:p.Pro133ArgfsTer15
XM_017001321.2:c.426_427del	XP_016856810.1:p.Pro143ArgfsTer15
NM_000530.8:c.396_397del MANE Select	NP_000521.2:p.Pro133ArgfsTer15
NM_001315491.2:c.396_397del	NP_001302420.1:p.Pro133ArgfsTer15