Canonical Allele Identifier: CA599028326

Gene: PEX16

Linked Data

• dbSNP Id: rs1488154051
• gnomAD v2: 11-45931911-AC-A
• gnomAD v4: 11-45910360-AC-A
• MyVariant Identifiers: chr11:g.45931912del (hg19) ; chr11:g.45910361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910361del , CM000673.2:g.45910361del	GRCh38
NC_000011.9:g.45931912del , CM000673.1:g.45931912del	GRCh37
NC_000011.8:g.45888488del	NCBI36
NG_008460.1:g.12763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-49del MANE Select	ENSP00000368024.5:n.953-49del
ENST00000241041.7:c.953-184del	ENSP00000241041.3:n.953-184del
ENST00000378750.9:c.953-49del	ENSP00000368024.5:n.953-49del
ENST00000523721.2:n.183-49del
ENST00000532681.5:c.668-49del	ENSP00000434654.1:n.668-49del
NM_004813.2:c.953-49del	NP_004804.1:n.953-49del
NM_057174.2:c.953-184del	NP_476515.1:n.953-184del
XM_011520474.1:c.830-49del	XP_011518776.1:n.830-49del
NM_004813.3:c.953-49del	NP_004804.1:n.953-49del
NM_004813.4:c.953-49del MANE Select	NP_004804.2:n.953-49del
NM_057174.3:c.953-184del	NP_476515.2:n.953-184del