Canonical Allele Identifier: CA2586967667

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306815del , CM000663.2:g.161306815del	GRCh38
NC_000001.10:g.161276605del , CM000663.1:g.161276605del	GRCh37
NC_000001.9:g.159543229del	NCBI36
NG_008055.1:g.8158del , LRG_256:g.8158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.341del	ENSP00000488104.2:p.Ile114AsnfsTer4
ENST00000533357.5:c.341del MANE Select	ENSP00000432943.1:p.Ile114AsnfsTer4
ENST00000672287.2:c.-248del	ENSP00000499818.2:n.-248del
ENST00000672602.2:c.341del	ENSP00000500814.2:p.Ile114AsnfsTer4
ENST00000674861.1:n.404del
ENST00000463290.5:c.341del	ENSP00000431538.1:p.Ile114AsnfsTer4
ENST00000491222.5:c.-248del	ENSP00000431441.1:n.-248del
ENST00000526189.2:c.85del
ENST00000533357.4:c.341del	ENSP00000432943.1:p.Ile114AsnfsTer4
NM_000530.6:c.341del , LRG_256t1:c.341del	NP_000521.2:p.Ile114AsnfsTer4
NM_000530.7:c.341del	NP_000521.2:p.Ile114AsnfsTer4
NM_001315491.1:c.341del	NP_001302420.1:p.Ile114AsnfsTer4
XM_017001321.2:c.371del	XP_016856810.1:p.Ile124AsnfsTer4
NM_000530.8:c.341del MANE Select	NP_000521.2:p.Ile114AsnfsTer4
NM_001315491.2:c.341del	NP_001302420.1:p.Ile114AsnfsTer4