Canonical Allele Identifier: CA2586967650

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305926_161305929del , CM000663.2:g.161305926_161305929del	GRCh38
NC_000001.10:g.161275716_161275719del , CM000663.1:g.161275716_161275719del	GRCh37
NC_000001.9:g.159542340_159542343del	NCBI36
NG_008055.1:g.9046_9049del , LRG_256:g.9046_9049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.615_618del	ENSP00000488104.2:p.Ser206ArgfsTer18
ENST00000533357.5:c.696_699del MANE Select	ENSP00000432943.1:p.Ser233ArgfsTer18
ENST00000672287.2:c.108_111del	ENSP00000499818.2:p.Ser37ArgfsTer18
ENST00000672602.2:c.696_699del	ENSP00000500814.2:p.Ser233ArgfsTer18
ENST00000674861.1:n.759_762del
ENST00000463290.5:c.696_699del	ENSP00000431538.1:p.Ser233ArgfsTer18
ENST00000476410.1:n.286_289del
ENST00000488271.1:n.134_137del
ENST00000491222.5:c.108_111del	ENSP00000431441.1:p.Ser37ArgfsTer18
ENST00000526189.2:c.359_362del
ENST00000533357.4:c.696_699del	ENSP00000432943.1:p.Ser233ArgfsTer18
NM_000530.6:c.696_699del , LRG_256t1:c.696_699del	NP_000521.2:p.Ser233ArgfsTer18
NM_000530.7:c.696_699del	NP_000521.2:p.Ser233ArgfsTer18
NM_001315491.1:c.696_699del	NP_001302420.1:p.Ser233ArgfsTer18
XM_017001321.2:c.675+181_675+184del	XP_016856810.1:n.675+181_675+184del
NM_000530.8:c.696_699del MANE Select	NP_000521.2:p.Ser233ArgfsTer18
NM_001315491.2:c.696_699del	NP_001302420.1:p.Ser233ArgfsTer18