Canonical Allele Identifier: CA915943872

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637352
• ClinVar RCV Id: RCV000789476
• dbSNP Id: rs1571819301

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306891_161306898delinsAGAGG , CM000663.2:g.161306891_161306898delinsAGAGG	GRCh38
NC_000001.10:g.161276681_161276688delinsAGAGG , CM000663.1:g.161276681_161276688delinsAGAGG	GRCh37
NC_000001.9:g.159543305_159543312delinsAGAGG	NCBI36
NG_008055.1:g.8075_8082delinsCCTCT , LRG_256:g.8075_8082delinsCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.258_265delinsCCTCT	ENSP00000488104.2:p.Gln86_Ile89delinsHisLeuPhe
ENST00000533357.5:c.258_265delinsCCTCT MANE Select	ENSP00000432943.1:p.Gln86_Ile89delinsHisLeuPhe
ENST00000672287.2:c.-331_-324delinsCCTCT	ENSP00000499818.2:n.-331_-324delinsCCTCT
ENST00000672602.2:c.258_265delinsCCTCT	ENSP00000500814.2:p.Gln86_Ile89delinsHisLeuPhe
ENST00000674861.1:n.321_328delinsCCTCT
ENST00000463290.5:c.258_265delinsCCTCT	ENSP00000431538.1:p.Gln86_Ile89delinsHisLeuPhe
ENST00000491222.5:c.-331_-324delinsCCTCT	ENSP00000431441.1:n.-331_-324delinsCCTCT
ENST00000526189.2:c.2_9delinsCCTCT
ENST00000533357.4:c.258_265delinsCCTCT	ENSP00000432943.1:p.Gln86_Ile89delinsHisLeuPhe
NM_000530.6:c.258_265delinsCCTCT , LRG_256t1:c.258_265delinsCCTCT	NP_000521.2:p.Gln86_Ile89delinsHisLeuPhe
NM_000530.7:c.258_265delinsCCTCT	NP_000521.2:p.Gln86_Ile89delinsHisLeuPhe
NM_001315491.1:c.258_265delinsCCTCT	NP_001302420.1:p.Gln86_Ile89delinsHisLeuPhe
XM_017001321.2:c.288_295delinsCCTCT	XP_016856810.1:p.Gln96_Ile99delinsHisLeuPhe
NM_000530.8:c.258_265delinsCCTCT MANE Select	NP_000521.2:p.Gln86_Ile89delinsHisLeuPhe
NM_001315491.2:c.258_265delinsCCTCT	NP_001302420.1:p.Gln86_Ile89delinsHisLeuPhe