Canonical Allele Identifier: CA5959746

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910879_45910880del , CM000673.2:g.45910879_45910880del	GRCh38
NC_000011.9:g.45932430_45932431del , CM000673.1:g.45932430_45932431del	GRCh37
NC_000011.8:g.45889006_45889007del	NCBI36
NG_008460.1:g.12246_12247del

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.952+20_952+21del MANE Select	NP_004804.2:n.952+20_952+21del
ENST00000378750.10:c.952+20_952+21del MANE Select	ENSP00000368024.5:n.952+20_952+21del
NM_004813.2:c.952+20_952+21del	NP_004804.1:n.952+20_952+21del
NM_004813.3:c.952+20_952+21del	NP_004804.1:n.952+20_952+21del
NM_057174.2:c.952+20_952+21del	NP_476515.1:n.952+20_952+21del
NM_057174.3:c.952+20_952+21del	NP_476515.2:n.952+20_952+21del
ENST00000241041.7:c.952+20_952+21del	ENSP00000241041.3:n.952+20_952+21del
ENST00000378750.9:c.952+20_952+21del	ENSP00000368024.5:n.952+20_952+21del
ENST00000523721.2:n.182+20_182+21del
ENST00000532681.5:c.667+20_667+21del	ENSP00000434654.1:n.667+20_667+21del
XM_011520474.1:c.829+20_829+21del	XP_011518776.1:n.829+20_829+21del