Canonical Allele Identifier: CA2613267675

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913887del , CM000673.2:g.45913887del	GRCh38
NC_000011.9:g.45935438del , CM000673.1:g.45935438del	GRCh37
NC_000011.8:g.45892014del	NCBI36
NG_008460.1:g.9237del

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.819del MANE Select	NP_004804.2:p.Glu273AspfsTer?
ENST00000378750.10:c.819del MANE Select	ENSP00000368024.5:p.Glu273AspfsTer?
NM_004813.2:c.819del	NP_004804.1:p.Glu273AspfsTer?
NM_004813.3:c.819del	NP_004804.1:p.Glu273AspfsTer?
NM_057174.2:c.819del	NP_476515.1:p.Glu273AspfsTer?
NM_057174.3:c.819del	NP_476515.2:p.Glu273AspfsTer?
ENST00000241041.7:c.819del	ENSP00000241041.3:p.Glu273AspfsTer?
ENST00000378750.9:c.819del	ENSP00000368024.5:p.Glu273AspfsTer?
ENST00000532681.5:c.534del	ENSP00000434654.1:p.Glu178AspfsTer?
ENST00000533151.5:c.507del	ENSP00000433045.1:p.Glu169AspfsTer?
XM_011520474.1:c.696del	XP_011518776.1:p.Glu232AspfsTer?