Canonical Allele Identifier: CA1148472295

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305899_161305903delinsCCCCC , CM000663.2:g.161305899_161305903delinsCCCCC	GRCh38
NC_000001.10:g.161275689_161275693delinsCCCCC , CM000663.1:g.161275689_161275693delinsCCCCC	GRCh37
NC_000001.9:g.159542313_159542317delinsCCCCC	NCBI36
NG_008055.1:g.9070_9074delinsGGGGG , LRG_256:g.9070_9074delinsGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.639_643delinsGGGGG	ENSP00000488104.2:p.Leu213=
ENST00000533357.5:c.720_724delinsGGGGG MANE Select	ENSP00000432943.1:p.Leu240=
ENST00000672287.2:c.132_136delinsGGGGG	ENSP00000499818.2:p.Leu44=
ENST00000672602.2:c.720_724delinsGGGGG	ENSP00000500814.2:p.Leu240=
ENST00000674861.1:n.783_787delinsGGGGG
ENST00000463290.5:c.720_724delinsGGGGG	ENSP00000431538.1:p.Leu240=
ENST00000476410.1:n.310_314delinsGGGGG
ENST00000488271.1:n.158_162delinsGGGGG
ENST00000491222.5:c.132_136delinsGGGGG	ENSP00000431441.1:p.Leu44=
ENST00000526189.2:c.383_387delinsGGGGG
ENST00000533357.4:c.720_724delinsGGGGG	ENSP00000432943.1:p.Leu240=
NM_000530.6:c.720_724delinsGGGGG , LRG_256t1:c.720_724delinsGGGGG	NP_000521.2:p.Leu240=
NM_000530.7:c.720_724delinsGGGGG	NP_000521.2:p.Leu240=
NM_001315491.1:c.720_724delinsGGGGG	NP_001302420.1:p.Leu240=
XM_017001321.2:c.675+205_675+209delinsGGGGG	XP_016856810.1:n.675+205_675+209delinsGGGGG
NM_000530.8:c.720_724delinsGGGGG MANE Select	NP_000521.2:p.Leu240=
NM_001315491.2:c.720_724delinsGGGGG	NP_001302420.1:p.Leu240=