Canonical Allele Identifier: CA658656972

Gene: MPZ

Linked Data

• ClinVar Variation Id: 447726
• ClinVar RCV Id: RCV000517038
• dbSNP Id: rs1553259786
• MyVariant Identifiers: chr1:g.161277125_161277127del (hg19) ; chr1:g.161307335_161307337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307337_161307339del , CM000663.2:g.161307337_161307339del	GRCh38
NC_000001.10:g.161277127_161277129del , CM000663.1:g.161277127_161277129del	GRCh37
NC_000001.9:g.159543751_159543753del	NCBI36
NG_008055.1:g.7636_7638del , LRG_256:g.7636_7638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.155_157del	ENSP00000488104.2:p.Phe52del
ENST00000533357.5:c.155_157del MANE Select	ENSP00000432943.1:p.Phe52del
ENST00000672287.2:c.-434_-432del	ENSP00000499818.2:n.-434_-432del
ENST00000672602.2:c.155_157del	ENSP00000500814.2:p.Phe52del
ENST00000674861.1:n.218_220del
ENST00000463290.5:c.155_157del	ENSP00000431538.1:p.Phe52del
ENST00000491222.5:c.-434_-432del	ENSP00000431441.1:n.-434_-432del
ENST00000533357.4:c.155_157del	ENSP00000432943.1:p.Phe52del
NM_000530.6:c.155_157del , LRG_256t1:c.155_157del	NP_000521.2:p.Phe52del
NM_000530.7:c.155_157del	NP_000521.2:p.Phe52del
NM_001315491.1:c.155_157del	NP_001302420.1:p.Phe52del
XM_017001321.2:c.185_187del	XP_016856810.1:p.Phe62del
NM_000530.8:c.155_157del MANE Select	NP_000521.2:p.Phe52del
NM_001315491.2:c.155_157del	NP_001302420.1:p.Phe52del