Canonical Allele Identifier: CA527135328

Gene: MPZ

Linked Data

• gnomAD v2: 1-161276803-G-GAAAAAAA
• gnomAD v3: 1-161307013-G-GAAAAAAA
• gnomAD v4: 1-161307013-G-GAAAAAAA
• MyVariant Identifiers: chr1:g.161276804_161276805delinsAAAAAAACA (hg19) ; chr1:g.161307014_161307015delinsAAAAAAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307013_161307014insAAAAAAA , CM000663.2:g.161307013_161307014insAAAAAAA	GRCh38
NC_000001.10:g.161276803_161276804insAAAAAAA , CM000663.1:g.161276803_161276804insAAAAAAA	GRCh37
NC_000001.9:g.159543427_159543428insAAAAAAA	NCBI36
NG_008055.1:g.7959_7960insTTTTTTT , LRG_256:g.7959_7960insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.235-93_235-92insTTTTTTT	ENSP00000488104.2:n.235-93_235-92insTTTTTTT
ENST00000533357.5:c.235-93_235-92insTTTTTTT MANE Select	ENSP00000432943.1:n.235-93_235-92insTTTTTTT
ENST00000672287.2:c.-354-93_-354-92insTTTTTTT	ENSP00000499818.2:n.-354-93_-354-92insTTTTTTT
ENST00000672602.2:c.235-93_235-92insTTTTTTT	ENSP00000500814.2:n.235-93_235-92insTTTTTTT
ENST00000674861.1:n.298-93_298-92insTTTTTTT
ENST00000463290.5:c.235-93_235-92insTTTTTTT	ENSP00000431538.1:n.235-93_235-92insTTTTTTT
ENST00000491222.5:c.-354-93_-354-92insTTTTTTT	ENSP00000431441.1:n.-354-93_-354-92insTTTTTTT
ENST00000533357.4:c.235-93_235-92insTTTTTTT	ENSP00000432943.1:n.235-93_235-92insTTTTTTT
NM_000530.6:c.235-93_235-92insTTTTTTT , LRG_256t1:c.235-93_235-92insTTTTTTT	NP_000521.2:n.235-93_235-92insTTTTTTT
NM_000530.7:c.235-93_235-92insTTTTTTT	NP_000521.2:n.235-93_235-92insTTTTTTT
NM_001315491.1:c.235-93_235-92insTTTTTTT	NP_001302420.1:n.235-93_235-92insTTTTTTT
XM_017001321.2:c.265-93_265-92insTTTTTTT	XP_016856810.1:n.265-93_265-92insTTTTTTT
NM_000530.8:c.235-93_235-92insTTTTTTT MANE Select	NP_000521.2:n.235-93_235-92insTTTTTTT
NM_001315491.2:c.235-93_235-92insTTTTTTT	NP_001302420.1:n.235-93_235-92insTTTTTTT