Canonical Allele Identifier: CA890184974

Gene: MPZ

Linked Data

• dbSNP Id: rs1242586138
• gnomAD v3: 1-161307659-AT-A
• gnomAD v4: 1-161307659-AT-A
• MyVariant Identifiers: chr1:g.161277450del (hg19) ; chr1:g.161307660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307661del , CM000663.2:g.161307661del	GRCh38
NC_000001.10:g.161277451del , CM000663.1:g.161277451del	GRCh37
NC_000001.9:g.159544075del	NCBI36
NG_008055.1:g.7313del , LRG_256:g.7313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-236del	ENSP00000488104.2:n.68-236del
ENST00000533357.5:c.68-236del MANE Select	ENSP00000432943.1:n.68-236del
ENST00000672602.2:c.68-236del	ENSP00000500814.2:n.68-236del
ENST00000674861.1:n.131-236del
ENST00000463290.5:c.68-236del	ENSP00000431538.1:n.68-236del
ENST00000533357.4:c.68-236del	ENSP00000432943.1:n.68-236del
NM_000530.6:c.68-236del , LRG_256t1:c.68-236del	NP_000521.2:n.68-236del
NM_000530.7:c.68-236del	NP_000521.2:n.68-236del
NM_001315491.1:c.68-236del	NP_001302420.1:n.68-236del
XM_017001321.2:c.98-236del	XP_016856810.1:n.98-236del
NM_000530.8:c.68-236del MANE Select	NP_000521.2:n.68-236del
NM_001315491.2:c.68-236del	NP_001302420.1:n.68-236del