Canonical Allele Identifier: CA1008409306

Gene: MPZ

Linked Data

• gnomAD v3: 1-161307014-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 1-161307014-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307038_161307039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.161307038_161307039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.161276828_161276829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.161276828_161276829insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.159543452_159543453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008055.1:g.7958_7959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_256:g.7958_7959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000488104.2:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000533357.5:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000432943.1:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000672287.2:c.-354-94_-354-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000499818.2:n.-354-94_-354-93insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000672602.2:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000500814.2:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000674861.1:n.298-94_298-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000463290.5:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000431538.1:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000491222.5:c.-354-94_-354-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000431441.1:n.-354-94_-354-93insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000533357.4:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000432943.1:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000530.6:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_256t1:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000521.2:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000530.7:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000521.2:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001315491.1:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001302420.1:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017001321.2:c.265-94_265-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016856810.1:n.265-94_265-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000530.8:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000521.2:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001315491.2:c.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001302420.1:n.235-94_235-93insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...