Canonical Allele Identifier: CA2746371068

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307546_161307547insCCAAACACACCCAAC , CM000663.2:g.161307546_161307547insCCAAACACACCCAAC	GRCh38
NC_000001.10:g.161277336_161277337insCCAAACACACCCAAC , CM000663.1:g.161277336_161277337insCCAAACACACCCAAC	GRCh37
NC_000001.9:g.159543960_159543961insCCAAACACACCCAAC	NCBI36
NG_008055.1:g.7426_7427insGTTGGGTGTGTTTGG , LRG_256:g.7426_7427insGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-123_68-122insGTTGGGTGTGTTTGG	ENSP00000488104.2:n.68-123_68-122insGTTGGGTGTGTTTGG
ENST00000533357.5:c.68-123_68-122insGTTGGGTGTGTTTGG MANE Select	ENSP00000432943.1:n.68-123_68-122insGTTGGGTGTGTTTGG
ENST00000672602.2:c.68-123_68-122insGTTGGGTGTGTTTGG	ENSP00000500814.2:n.68-123_68-122insGTTGGGTGTGTTTGG
ENST00000674861.1:n.131-123_131-122insGTTGGGTGTGTTTGG
ENST00000463290.5:c.68-123_68-122insGTTGGGTGTGTTTGG	ENSP00000431538.1:n.68-123_68-122insGTTGGGTGTGTTTGG
ENST00000533357.4:c.68-123_68-122insGTTGGGTGTGTTTGG	ENSP00000432943.1:n.68-123_68-122insGTTGGGTGTGTTTGG
NM_000530.6:c.68-123_68-122insGTTGGGTGTGTTTGG , LRG_256t1:c.68-123_68-122insGTTGGGTGTGTTTGG	NP_000521.2:n.68-123_68-122insGTTGGGTGTGTTTGG
NM_000530.7:c.68-123_68-122insGTTGGGTGTGTTTGG	NP_000521.2:n.68-123_68-122insGTTGGGTGTGTTTGG
NM_001315491.1:c.68-123_68-122insGTTGGGTGTGTTTGG	NP_001302420.1:n.68-123_68-122insGTTGGGTGTGTTTGG
XM_017001321.2:c.98-123_98-122insGTTGGGTGTGTTTGG	XP_016856810.1:n.98-123_98-122insGTTGGGTGTGTTTGG
NM_000530.8:c.68-123_68-122insGTTGGGTGTGTTTGG MANE Select	NP_000521.2:n.68-123_68-122insGTTGGGTGTGTTTGG
NM_001315491.2:c.68-123_68-122insGTTGGGTGTGTTTGG	NP_001302420.1:n.68-123_68-122insGTTGGGTGTGTTTGG