Canonical Allele Identifier: CA1202688261

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306147_161306148delinsCA , CM000663.2:g.161306147_161306148delinsCA	GRCh38
NC_000001.10:g.161275937_161275938delinsCA , CM000663.1:g.161275937_161275938delinsCA	GRCh37
NC_000001.9:g.159542561_159542562delinsCA	NCBI36
NG_008055.1:g.8825_8826delinsTG , LRG_256:g.8825_8826delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.524_525delinsTG	ENSP00000488104.2:p.Leu175=
ENST00000533357.5:c.605_606delinsTG MANE Select	ENSP00000432943.1:p.Leu202=
ENST00000672287.2:c.17_18delinsTG	ENSP00000499818.2:p.Leu6=
ENST00000672602.2:c.605_606delinsTG	ENSP00000500814.2:p.Leu202=
ENST00000674861.1:n.668_669delinsTG
ENST00000463290.5:c.605_606delinsTG	ENSP00000431538.1:p.Leu202=
ENST00000476410.1:n.65_66delinsTG
ENST00000488271.1:n.43_44delinsTG
ENST00000491222.5:c.17_18delinsTG	ENSP00000431441.1:p.Leu6=
ENST00000526189.2:c.268_269delinsTG
ENST00000533357.4:c.605_606delinsTG	ENSP00000432943.1:p.Leu202=
NM_000530.6:c.605_606delinsTG , LRG_256t1:c.605_606delinsTG	NP_000521.2:p.Leu202=
NM_000530.7:c.605_606delinsTG	NP_000521.2:p.Leu202=
NM_001315491.1:c.605_606delinsTG	NP_001302420.1:p.Leu202=
XM_017001321.2:c.635_636delinsTG	XP_016856810.1:p.Leu212=
NM_000530.8:c.605_606delinsTG MANE Select	NP_000521.2:p.Leu202=
NM_001315491.2:c.605_606delinsTG	NP_001302420.1:p.Leu202=