Canonical Allele Identifier: CA2791291453

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910373_45910374insACAACCAAACACACCCAA , CM000673.2:g.45910373_45910374insACAACCAAACACACCCAA	GRCh38
NC_000011.9:g.45931924_45931925insACAACCAAACACACCCAA , CM000673.1:g.45931924_45931925insACAACCAAACACACCCAA	GRCh37
NC_000011.8:g.45888500_45888501insACAACCAAACACACCCAA	NCBI36
NG_008460.1:g.12751_12752insTGGGTGTGTTTGGTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-61_953-60insTGGGTGTGTTTGGTTGTT MANE Select	ENSP00000368024.5:n.953-61_953-60insTGGGTGTGTTTGGTTGTT
ENST00000241041.7:c.953-196_953-195insTGGGTGTGTTTGGTTGTT	ENSP00000241041.3:n.953-196_953-195insTGGGTGTGTTTGGTTGTT
ENST00000378750.9:c.953-61_953-60insTGGGTGTGTTTGGTTGTT	ENSP00000368024.5:n.953-61_953-60insTGGGTGTGTTTGGTTGTT
ENST00000523721.2:n.183-61_183-60insTGGGTGTGTTTGGTTGTT
ENST00000532681.5:c.668-61_668-60insTGGGTGTGTTTGGTTGTT	ENSP00000434654.1:n.668-61_668-60insTGGGTGTGTTTGGTTGTT
NM_004813.2:c.953-61_953-60insTGGGTGTGTTTGGTTGTT	NP_004804.1:n.953-61_953-60insTGGGTGTGTTTGGTTGTT
NM_057174.2:c.953-196_953-195insTGGGTGTGTTTGGTTGTT	NP_476515.1:n.953-196_953-195insTGGGTGTGTTTGGTTGTT
XM_011520474.1:c.830-61_830-60insTGGGTGTGTTTGGTTGTT	XP_011518776.1:n.830-61_830-60insTGGGTGTGTTTGGTTGTT
NM_004813.3:c.953-61_953-60insTGGGTGTGTTTGGTTGTT	NP_004804.1:n.953-61_953-60insTGGGTGTGTTTGGTTGTT
NM_004813.4:c.953-61_953-60insTGGGTGTGTTTGGTTGTT MANE Select	NP_004804.2:n.953-61_953-60insTGGGTGTGTTTGGTTGTT
NM_057174.3:c.953-196_953-195insTGGGTGTGTTTGGTTGTT	NP_476515.2:n.953-196_953-195insTGGGTGTGTTTGGTTGTT