Canonical Allele Identifier: CA16609903

Gene: MPZ

Linked Data

• ClinVar Variation Id: 411667
• ClinVar RCV Id: RCV000468928
• dbSNP Id: rs1060503419
• MyVariant Identifiers: chr1:g.161276636_161276641del (hg19) ; chr1:g.161306846_161306851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306849_161306854del , CM000663.2:g.161306849_161306854del	GRCh38
NC_000001.10:g.161276639_161276644del , CM000663.1:g.161276639_161276644del	GRCh37
NC_000001.9:g.159543263_159543268del	NCBI36
NG_008055.1:g.8122_8127del , LRG_256:g.8122_8127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.305_310del	ENSP00000488104.2:p.Val102_Gly103del
ENST00000533357.5:c.305_310del MANE Select	ENSP00000432943.1:p.Val102_Gly103del
ENST00000672287.2:c.-284_-279del	ENSP00000499818.2:n.-284_-279del
ENST00000672602.2:c.305_310del	ENSP00000500814.2:p.Val102_Gly103del
ENST00000674861.1:n.368_373del
ENST00000463290.5:c.305_310del	ENSP00000431538.1:p.Val102_Gly103del
ENST00000491222.5:c.-284_-279del	ENSP00000431441.1:n.-284_-279del
ENST00000526189.2:c.49_54del
ENST00000533357.4:c.305_310del	ENSP00000432943.1:p.Val102_Gly103del
NM_000530.6:c.305_310del , LRG_256t1:c.305_310del	NP_000521.2:p.Val102_Gly103del
NM_000530.7:c.305_310del	NP_000521.2:p.Val102_Gly103del
NM_001315491.1:c.305_310del	NP_001302420.1:p.Val102_Gly103del
XM_017001321.2:c.335_340del	XP_016856810.1:p.Val112_Gly113del
NM_000530.8:c.305_310del MANE Select	NP_000521.2:p.Val102_Gly103del
NM_001315491.2:c.305_310del	NP_001302420.1:p.Val102_Gly103del