Canonical Allele Identifier: CA890182593

Gene: MPZ

Linked Data

• dbSNP Id: rs1219514947
• MyVariant Identifiers: chr1:g.161275920_161275928del (hg19) ; chr1:g.161306130_161306138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306130_161306138del , CM000663.2:g.161306130_161306138del	GRCh38
NC_000001.10:g.161275920_161275928del , CM000663.1:g.161275920_161275928del	GRCh37
NC_000001.9:g.159542544_159542552del	NCBI36
NG_008055.1:g.8835_8843del , LRG_256:g.8835_8843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.534_542del	ENSP00000488104.2:p.Gly179_Asp181del
ENST00000533357.5:c.615_623del MANE Select	ENSP00000432943.1:p.Gly206_Asp208del
ENST00000672287.2:c.27_35del	ENSP00000499818.2:p.Gly10_Asp12del
ENST00000672602.2:c.615_623del	ENSP00000500814.2:p.Gly206_Asp208del
ENST00000674861.1:n.678_686del
ENST00000463290.5:c.615_623del	ENSP00000431538.1:p.Gly206_Asp208del
ENST00000476410.1:n.75_83del
ENST00000488271.1:n.53_61del
ENST00000491222.5:c.27_35del	ENSP00000431441.1:p.Gly10_Asp12del
ENST00000526189.2:c.278_286del
ENST00000533357.4:c.615_623del	ENSP00000432943.1:p.Gly206_Asp208del
NM_000530.6:c.615_623del , LRG_256t1:c.615_623del	NP_000521.2:p.Gly206_Asp208del
NM_000530.7:c.615_623del	NP_000521.2:p.Gly206_Asp208del
NM_001315491.1:c.615_623del	NP_001302420.1:p.Gly206_Asp208del
XM_017001321.2:c.645_653del	XP_016856810.1:p.Gly216_Asp218del
NM_000530.8:c.615_623del MANE Select	NP_000521.2:p.Gly206_Asp208del
NM_001315491.2:c.615_623del	NP_001302420.1:p.Gly206_Asp208del