Canonical Allele Identifier: CA31669833

Gene: MPZ

Linked Data

• dbSNP Id: rs915937367
• gnomAD v2: 1-161277245-CCTA-C
• gnomAD v3: 1-161307455-CCTA-C
• gnomAD v4: 1-161307455-CCTA-C
• MyVariant Identifiers: chr1:g.161277246_161277248del (hg19) ; chr1:g.161307456_161307458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307456_161307458del , CM000663.2:g.161307456_161307458del	GRCh38
NC_000001.10:g.161277246_161277248del , CM000663.1:g.161277246_161277248del	GRCh37
NC_000001.9:g.159543870_159543872del	NCBI36
NG_008055.1:g.7515_7517del , LRG_256:g.7515_7517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-34_68-32del	ENSP00000488104.2:n.68-34_68-32del
ENST00000533357.5:c.68-34_68-32del MANE Select	ENSP00000432943.1:n.68-34_68-32del
ENST00000672287.2:c.-555_-553del	ENSP00000499818.2:n.-555_-553del
ENST00000672602.2:c.68-34_68-32del	ENSP00000500814.2:n.68-34_68-32del
ENST00000674861.1:n.131-34_131-32del
ENST00000463290.5:c.68-34_68-32del	ENSP00000431538.1:n.68-34_68-32del
ENST00000491222.5:c.-555_-553del	ENSP00000431441.1:n.-555_-553del
ENST00000533357.4:c.68-34_68-32del	ENSP00000432943.1:n.68-34_68-32del
NM_000530.6:c.68-34_68-32del , LRG_256t1:c.68-34_68-32del	NP_000521.2:n.68-34_68-32del
NM_000530.7:c.68-34_68-32del	NP_000521.2:n.68-34_68-32del
NM_001315491.1:c.68-34_68-32del	NP_001302420.1:n.68-34_68-32del
XM_017001321.2:c.98-34_98-32del	XP_016856810.1:n.98-34_98-32del
NM_000530.8:c.68-34_68-32del MANE Select	NP_000521.2:n.68-34_68-32del
NM_001315491.2:c.68-34_68-32del	NP_001302420.1:n.68-34_68-32del