Canonical Allele Identifier: CA2648773865

Gene: MPZ

Linked Data

• gnomAD v4: 1-161307014-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307038_161307039insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.161307038_161307039insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.161276828_161276829insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.161276828_161276829insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.159543452_159543453insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008055.1:g.7958_7959insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_256:g.7958_7959insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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