Canonical Allele Identifier: CA1202689440

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306778_161306784delinsAGTGAAC , CM000663.2:g.161306778_161306784delinsAGTGAAC	GRCh38
NC_000001.10:g.161276568_161276574delinsAGTGAAC , CM000663.1:g.161276568_161276574delinsAGTGAAC	GRCh37
NC_000001.9:g.159543192_159543198delinsAGTGAAC	NCBI36
NG_008055.1:g.8189_8195delinsGTTCACT , LRG_256:g.8189_8195delinsGTTCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+5_367+11delinsGTTCACT	ENSP00000488104.2:n.367+5_367+11delinsGTTCACT
ENST00000533357.5:c.372_378delinsGTTCACT MANE Select	ENSP00000432943.1:p.Thr124=
ENST00000672287.2:c.-217_-211delinsGTTCACT	ENSP00000499818.2:n.-217_-211delinsGTTCACT
ENST00000672602.2:c.372_378delinsGTTCACT	ENSP00000500814.2:p.Thr124=
ENST00000674861.1:n.435_441delinsGTTCACT
ENST00000463290.5:c.372_378delinsGTTCACT	ENSP00000431538.1:p.Thr124=
ENST00000491222.5:c.-217_-211delinsGTTCACT	ENSP00000431441.1:n.-217_-211delinsGTTCACT
ENST00000526189.2:c.111+5_111+11delinsGTTCACT
ENST00000533357.4:c.372_378delinsGTTCACT	ENSP00000432943.1:p.Thr124=
NM_000530.6:c.372_378delinsGTTCACT , LRG_256t1:c.372_378delinsGTTCACT	NP_000521.2:p.Thr124=
NM_000530.7:c.372_378delinsGTTCACT	NP_000521.2:p.Thr124=
NM_001315491.1:c.372_378delinsGTTCACT	NP_001302420.1:p.Thr124=
XM_017001321.2:c.402_408delinsGTTCACT	XP_016856810.1:p.Thr134=
NM_000530.8:c.372_378delinsGTTCACT MANE Select	NP_000521.2:p.Thr124=
NM_001315491.2:c.372_378delinsGTTCACT	NP_001302420.1:p.Thr124=