Canonical Allele Identifier: CA5959679

Gene: PEX16

Linked Data

• dbSNP Id: rs767442599
• ExAC: 11:45931666 G / GT
• gnomAD v2: 11-45931666-G-GT
• gnomAD v3: 11-45910115-G-GT
• gnomAD v4: 11-45910115-G-GT
• MyVariant Identifiers: chr11:g.45931666_45931667insT (hg19) ; chr11:g.45910115_45910116insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910116dup , CM000673.2:g.45910116dup	GRCh38
NC_000011.9:g.45931667dup , CM000673.1:g.45931667dup	GRCh37
NC_000011.8:g.45888243dup	NCBI36
NG_008460.1:g.13008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*138dup MANE Select	ENSP00000368024.5:n.*138dup
ENST00000241041.7:c.1014dup	ENSP00000241041.3:p.Pro339ThrfsTer?
NM_004813.2:c.*138dup	NP_004804.1:n.*138dup
NM_057174.2:c.1014dup	NP_476515.1:p.Pro339ThrfsTer?
NM_004813.3:c.*138dup	NP_004804.1:n.*138dup
NM_004813.4:c.*138dup MANE Select	NP_004804.2:n.*138dup
NM_057174.3:c.1014dup	NP_476515.2:p.Pro339ThrfsTer?