Canonical Allele Identifier: CA1202690402

Gene: MPZ

Linked Data

• dbSNP Id: rs1670281566
• gnomAD v3: 1-161307220-TTC-T
• gnomAD v4: 1-161307220-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307222_161307223del , CM000663.2:g.161307222_161307223del	GRCh38
NC_000001.10:g.161277012_161277013del , CM000663.1:g.161277012_161277013del	GRCh37
NC_000001.9:g.159543636_159543637del	NCBI36
NG_008055.1:g.7751_7752del , LRG_256:g.7751_7752del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.234+36_234+37del	ENSP00000488104.2:n.234+36_234+37del
ENST00000533357.5:c.234+36_234+37del MANE Select	ENSP00000432943.1:n.234+36_234+37del
ENST00000672287.2:c.-355+36_-355+37del	ENSP00000499818.2:n.-355+36_-355+37del
ENST00000672602.2:c.234+36_234+37del	ENSP00000500814.2:n.234+36_234+37del
ENST00000674861.1:n.297+36_297+37del
ENST00000463290.5:c.234+36_234+37del	ENSP00000431538.1:n.234+36_234+37del
ENST00000491222.5:c.-355+36_-355+37del	ENSP00000431441.1:n.-355+36_-355+37del
ENST00000533357.4:c.234+36_234+37del	ENSP00000432943.1:n.234+36_234+37del
NM_000530.6:c.234+36_234+37del , LRG_256t1:c.234+36_234+37del	NP_000521.2:n.234+36_234+37del
NM_000530.7:c.234+36_234+37del	NP_000521.2:n.234+36_234+37del
NM_001315491.1:c.234+36_234+37del	NP_001302420.1:n.234+36_234+37del
XM_017001321.2:c.264+36_264+37del	XP_016856810.1:n.264+36_264+37del
NM_000530.8:c.234+36_234+37del MANE Select	NP_000521.2:n.234+36_234+37del
NM_001315491.2:c.234+36_234+37del	NP_001302420.1:n.234+36_234+37del