Canonical Allele Identifier: CA2586967666

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306803_161306804insAGAAGT , CM000663.2:g.161306803_161306804insAGAAGT	GRCh38
NC_000001.10:g.161276593_161276594insAGAAGT , CM000663.1:g.161276593_161276594insAGAAGT	GRCh37
NC_000001.9:g.159543217_159543218insAGAAGT	NCBI36
NG_008055.1:g.8172_8173insTCTACT , LRG_256:g.8172_8173insTCTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.355_356insTCTACT	ENSP00000488104.2:p.Asp118_Tyr119insPheTyr
ENST00000533357.5:c.355_356insTCTACT MANE Select	ENSP00000432943.1:p.Asp118_Tyr119insPheTyr
ENST00000672287.2:c.-234_-233insTCTACT	ENSP00000499818.2:n.-234_-233insTCTACT
ENST00000672602.2:c.355_356insTCTACT	ENSP00000500814.2:p.Asp118_Tyr119insPheTyr
ENST00000674861.1:n.418_419insTCTACT
ENST00000463290.5:c.355_356insTCTACT	ENSP00000431538.1:p.Asp118_Tyr119insPheTyr
ENST00000491222.5:c.-234_-233insTCTACT	ENSP00000431441.1:n.-234_-233insTCTACT
ENST00000526189.2:c.99_100insTCTACT
ENST00000533357.4:c.355_356insTCTACT	ENSP00000432943.1:p.Asp118_Tyr119insPheTyr
NM_000530.6:c.355_356insTCTACT , LRG_256t1:c.355_356insTCTACT	NP_000521.2:p.Asp118_Tyr119insPheTyr
NM_000530.7:c.355_356insTCTACT	NP_000521.2:p.Asp118_Tyr119insPheTyr
NM_001315491.1:c.355_356insTCTACT	NP_001302420.1:p.Asp118_Tyr119insPheTyr
XM_017001321.2:c.385_386insTCTACT	XP_016856810.1:p.Asp128_Tyr129insPheTyr
NM_000530.8:c.355_356insTCTACT MANE Select	NP_000521.2:p.Asp118_Tyr119insPheTyr
NM_001315491.2:c.355_356insTCTACT	NP_001302420.1:p.Asp118_Tyr119insPheTyr