Canonical Allele Identifier: CA890183445

Gene: MPZ

Linked Data

• ClinVar Variation Id: 631569
• ClinVar RCV Id: RCV000778189 ; RCV000789477 ; RCV000797748
• dbSNP Id: rs1182353109
• gnomAD v3: 1-161306724-CA-C
• gnomAD v4: 1-161306724-CA-C
• MyVariant Identifiers: chr1:g.161276515del (hg19) ; chr1:g.161306725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306725del , CM000663.2:g.161306725del	GRCh38
NC_000001.10:g.161276515del , CM000663.1:g.161276515del	GRCh37
NC_000001.9:g.159543139del	NCBI36
NG_008055.1:g.8248del , LRG_256:g.8248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+64del	ENSP00000488104.2:n.367+64del
ENST00000533357.5:c.431del MANE Select	ENSP00000432943.1:p.Leu144ArgfsTer18
ENST00000672287.2:c.-158del	ENSP00000499818.2:n.-158del
ENST00000672602.2:c.431del	ENSP00000500814.2:p.Leu144ArgfsTer18
ENST00000674861.1:n.494del
ENST00000463290.5:c.431del	ENSP00000431538.1:p.Leu144ArgfsTer18
ENST00000491222.5:c.-158del	ENSP00000431441.1:n.-158del
ENST00000526189.2:c.111+64del
ENST00000533357.4:c.431del	ENSP00000432943.1:p.Leu144ArgfsTer18
NM_000530.6:c.431del , LRG_256t1:c.431del	NP_000521.2:p.Leu144ArgfsTer18
NM_000530.7:c.431del	NP_000521.2:p.Leu144ArgfsTer18
NM_001315491.1:c.431del	NP_001302420.1:p.Leu144ArgfsTer18
XM_017001321.2:c.461del	XP_016856810.1:p.Leu154ArgfsTer18
NM_000530.8:c.431del MANE Select	NP_000521.2:p.Leu144ArgfsTer18
NM_001315491.2:c.431del	NP_001302420.1:p.Leu144ArgfsTer18