Canonical Allele Identifier: CA1202688240
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306135_161306138delinsTCCT , CM000663.2:g.161306135_161306138delinsTCCT GRCh38
NC_000001.10:g.161275925_161275928delinsTCCT , CM000663.1:g.161275925_161275928delinsTCCT GRCh37
NC_000001.9:g.159542549_159542552delinsTCCT NCBI36
NG_008055.1:g.8835_8838delinsAGGA , LRG_256:g.8835_8838delinsAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.534_537delinsAGGA ENSP00000488104.2:p.Pro178=
ENST00000533357.5:c.615_618delinsAGGA MANE Select ENSP00000432943.1:p.Pro205=
ENST00000672287.2:c.27_30delinsAGGA ENSP00000499818.2:p.Pro9=
ENST00000672602.2:c.615_618delinsAGGA ENSP00000500814.2:p.Pro205=
ENST00000674861.1:n.678_681delinsAGGA
ENST00000463290.5:c.615_618delinsAGGA ENSP00000431538.1:p.Pro205=
ENST00000476410.1:n.75_78delinsAGGA
ENST00000488271.1:n.53_56delinsAGGA
ENST00000491222.5:c.27_30delinsAGGA ENSP00000431441.1:p.Pro9=
ENST00000526189.2:c.278_281delinsAGGA
ENST00000533357.4:c.615_618delinsAGGA ENSP00000432943.1:p.Pro205=
NM_000530.6:c.615_618delinsAGGA , LRG_256t1:c.615_618delinsAGGA NP_000521.2:p.Pro205=
NM_000530.7:c.615_618delinsAGGA NP_000521.2:p.Pro205=
NM_001315491.1:c.615_618delinsAGGA NP_001302420.1:p.Pro205=
XM_017001321.2:c.645_648delinsAGGA XP_016856810.1:p.Pro215=
NM_000530.8:c.615_618delinsAGGA MANE Select NP_000521.2:p.Pro205=
NM_001315491.2:c.615_618delinsAGGA NP_001302420.1:p.Pro205=