Canonical Allele Identifier: CA915948140

Gene: PEX16

Linked Data

• ClinVar Variation Id: 30351
• ClinVar RCV Id: RCV000023293
• dbSNP Id: rs1590793006

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910281del , CM000673.2:g.45910281del	GRCh38
NC_000011.9:g.45931832del , CM000673.1:g.45931832del	GRCh37
NC_000011.8:g.45888408del	NCBI36
NG_008460.1:g.12843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.984del MANE Select	ENSP00000368024.5:p.Ile330SerfsTer27
ENST00000241041.7:c.953-104del	ENSP00000241041.3:n.953-104del
ENST00000378750.9:c.984del	ENSP00000368024.5:p.Ile330SerfsTer27
ENST00000523721.2:n.214del
ENST00000532681.5:c.699del	ENSP00000434654.1:p.Ile235SerfsTer?
NM_004813.2:c.984del	NP_004804.1:p.Ile330SerfsTer27
NM_057174.2:c.953-104del	NP_476515.1:n.953-104del
XM_011520474.1:c.861del	XP_011518776.1:p.Ile289SerfsTer27
NM_004813.3:c.984del	NP_004804.1:p.Ile330SerfsTer27
NM_004813.4:c.984del MANE Select	NP_004804.2:p.Ile330SerfsTer27
NM_057174.3:c.953-104del	NP_476515.2:n.953-104del