Canonical Allele Identifier: CA915943877

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307367_161307369del , CM000663.2:g.161307367_161307369del	GRCh38
NC_000001.10:g.161277157_161277159del , CM000663.1:g.161277157_161277159del	GRCh37
NC_000001.9:g.159543781_159543783del	NCBI36
NG_008055.1:g.7604_7606del , LRG_256:g.7604_7606del

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.123_125del MANE Select	NP_000521.2:p.Val42del
ENST00000533357.5:c.123_125del MANE Select	ENSP00000432943.1:p.Val42del
NM_000530.6:c.123_125del , LRG_256t1:c.123_125del	NP_000521.2:p.Val42del
NM_000530.7:c.123_125del	NP_000521.2:p.Val42del
NM_001315491.1:c.123_125del	NP_001302420.1:p.Val42del
NM_001315491.2:c.123_125del	NP_001302420.1:p.Val42del
ENST00000463290.5:c.123_125del	ENSP00000431538.1:p.Val42del
ENST00000491222.5:c.-466_-464del	ENSP00000431441.1:n.-466_-464del
ENST00000526189.3:c.123_125del	ENSP00000488104.2:p.Val42del
ENST00000533357.4:c.123_125del	ENSP00000432943.1:p.Val42del
ENST00000672287.2:c.-466_-464del	ENSP00000499818.2:n.-466_-464del
ENST00000672602.2:c.123_125del	ENSP00000500814.2:p.Val42del
ENST00000674861.1:n.186_188del
XM_017001321.2:c.153_155del	XP_016856810.1:p.Val52del