Canonical Allele Identifier: CA2613278803

Gene: PEX16

Linked Data

• gnomAD v4: 11-45910394-GCCCAGGAGCCAGCCCAGCTGGCTGTCTTGCCCTGCCCCCAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910395_45910437del , CM000673.2:g.45910395_45910437del	GRCh38
NC_000011.9:g.45931946_45931988del , CM000673.1:g.45931946_45931988del	GRCh37
NC_000011.8:g.45888522_45888564del	NCBI36
NG_008460.1:g.12687_12729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-125_953-83del MANE Select	ENSP00000368024.5:n.953-125_953-83del
ENST00000241041.7:c.953-260_953-218del	ENSP00000241041.3:n.953-260_953-218del
ENST00000378750.9:c.953-125_953-83del	ENSP00000368024.5:n.953-125_953-83del
ENST00000523721.2:n.183-125_183-83del
ENST00000532681.5:c.668-125_668-83del	ENSP00000434654.1:n.668-125_668-83del
NM_004813.2:c.953-125_953-83del	NP_004804.1:n.953-125_953-83del
NM_057174.2:c.953-260_953-218del	NP_476515.1:n.953-260_953-218del
XM_011520474.1:c.830-125_830-83del	XP_011518776.1:n.830-125_830-83del
NM_004813.3:c.953-125_953-83del	NP_004804.1:n.953-125_953-83del
NM_004813.4:c.953-125_953-83del MANE Select	NP_004804.2:n.953-125_953-83del
NM_057174.3:c.953-260_953-218del	NP_476515.2:n.953-260_953-218del