Canonical Allele Identifier: CA1202688238

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306129_161306138delinsGTCCTTTCCT , CM000663.2:g.161306129_161306138delinsGTCCTTTCCT	GRCh38
NC_000001.10:g.161275919_161275928delinsGTCCTTTCCT , CM000663.1:g.161275919_161275928delinsGTCCTTTCCT	GRCh37
NC_000001.9:g.159542543_159542552delinsGTCCTTTCCT	NCBI36
NG_008055.1:g.8835_8844delinsAGGAAAGGAC , LRG_256:g.8835_8844delinsAGGAAAGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.534_543delinsAGGAAAGGAC	ENSP00000488104.2:p.Pro178=
ENST00000533357.5:c.615_624delinsAGGAAAGGAC MANE Select	ENSP00000432943.1:p.Pro205=
ENST00000672287.2:c.27_36delinsAGGAAAGGAC	ENSP00000499818.2:p.Pro9=
ENST00000672602.2:c.615_624delinsAGGAAAGGAC	ENSP00000500814.2:p.Pro205=
ENST00000674861.1:n.678_687delinsAGGAAAGGAC
ENST00000463290.5:c.615_624delinsAGGAAAGGAC	ENSP00000431538.1:p.Pro205=
ENST00000476410.1:n.75_84delinsAGGAAAGGAC
ENST00000488271.1:n.53_62delinsAGGAAAGGAC
ENST00000491222.5:c.27_36delinsAGGAAAGGAC	ENSP00000431441.1:p.Pro9=
ENST00000526189.2:c.278_287delinsAGGAAAGGAC
ENST00000533357.4:c.615_624delinsAGGAAAGGAC	ENSP00000432943.1:p.Pro205=
NM_000530.6:c.615_624delinsAGGAAAGGAC , LRG_256t1:c.615_624delinsAGGAAAGGAC	NP_000521.2:p.Pro205=
NM_000530.7:c.615_624delinsAGGAAAGGAC	NP_000521.2:p.Pro205=
NM_001315491.1:c.615_624delinsAGGAAAGGAC	NP_001302420.1:p.Pro205=
XM_017001321.2:c.645_654delinsAGGAAAGGAC	XP_016856810.1:p.Pro215=
NM_000530.8:c.615_624delinsAGGAAAGGAC MANE Select	NP_000521.2:p.Pro205=
NM_001315491.2:c.615_624delinsAGGAAAGGAC	NP_001302420.1:p.Pro205=