Canonical Allele Identifier: CA2791291450

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910365_45910370del , CM000673.2:g.45910365_45910370del	GRCh38
NC_000011.9:g.45931916_45931921del , CM000673.1:g.45931916_45931921del	GRCh37
NC_000011.8:g.45888492_45888497del	NCBI36
NG_008460.1:g.12754_12759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-58_953-53del MANE Select	ENSP00000368024.5:n.953-58_953-53del
ENST00000241041.7:c.953-193_953-188del	ENSP00000241041.3:n.953-193_953-188del
ENST00000378750.9:c.953-58_953-53del	ENSP00000368024.5:n.953-58_953-53del
ENST00000523721.2:n.183-58_183-53del
ENST00000532681.5:c.668-58_668-53del	ENSP00000434654.1:n.668-58_668-53del
NM_004813.2:c.953-58_953-53del	NP_004804.1:n.953-58_953-53del
NM_057174.2:c.953-193_953-188del	NP_476515.1:n.953-193_953-188del
XM_011520474.1:c.830-58_830-53del	XP_011518776.1:n.830-58_830-53del
NM_004813.3:c.953-58_953-53del	NP_004804.1:n.953-58_953-53del
NM_004813.4:c.953-58_953-53del MANE Select	NP_004804.2:n.953-58_953-53del
NM_057174.3:c.953-193_953-188del	NP_476515.2:n.953-193_953-188del