Canonical Allele Identifier: CA915943856

Gene: MPZ

Linked Data

• ClinVar Variation Id: 817219
• ClinVar RCV Id: RCV001008332
• dbSNP Id: rs1571817544

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306136_161306138delinsG , CM000663.2:g.161306136_161306138delinsG	GRCh38
NC_000001.10:g.161275926_161275928delinsG , CM000663.1:g.161275926_161275928delinsG	GRCh37
NC_000001.9:g.159542550_159542552delinsG	NCBI36
NG_008055.1:g.8835_8837delinsC , LRG_256:g.8835_8837delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.534_536delinsC	ENSP00000488104.2:p.Gly179LysfsTer28
ENST00000533357.5:c.615_617delinsC MANE Select	ENSP00000432943.1:p.Gly206LysfsTer28
ENST00000672287.2:c.27_29delinsC	ENSP00000499818.2:p.Gly10LysfsTer28
ENST00000672602.2:c.615_617delinsC	ENSP00000500814.2:p.Gly206LysfsTer28
ENST00000674861.1:n.678_680delinsC
ENST00000463290.5:c.615_617delinsC	ENSP00000431538.1:p.Gly206LysfsTer28
ENST00000476410.1:n.75_77delinsC
ENST00000488271.1:n.53_55delinsC
ENST00000491222.5:c.27_29delinsC	ENSP00000431441.1:p.Gly10LysfsTer28
ENST00000526189.2:c.278_280delinsC
ENST00000533357.4:c.615_617delinsC	ENSP00000432943.1:p.Gly206LysfsTer28
NM_000530.6:c.615_617delinsC , LRG_256t1:c.615_617delinsC	NP_000521.2:p.Gly206LysfsTer28
NM_000530.7:c.615_617delinsC	NP_000521.2:p.Gly206LysfsTer28
NM_001315491.1:c.615_617delinsC	NP_001302420.1:p.Gly206LysfsTer28
XM_017001321.2:c.645_647delinsC	XP_016856810.1:p.Gly216LysfsTer13
NM_000530.8:c.615_617delinsC MANE Select	NP_000521.2:p.Gly206LysfsTer28
NM_001315491.2:c.615_617delinsC	NP_001302420.1:p.Gly206LysfsTer28