Canonical Allele Identifier: CA2573146339

Gene: PEX16

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915716_45915717delinsTA , CM000673.2:g.45915716_45915717delinsTA	GRCh38
NC_000011.9:g.45937267_45937268delinsTA , CM000673.1:g.45937267_45937268delinsTA	GRCh37
NC_000011.8:g.45893843_45893844delinsTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.345_346delinsTA MANE Select	ENSP00000368024.5:p.Val116Ile
ENST00000241041.7:c.345_346delinsTA	ENSP00000241041.3:p.Val116Ile
ENST00000378750.9:c.345_346delinsTA	ENSP00000368024.5:p.Val116Ile
ENST00000525192.5:c.60_61delinsTA	ENSP00000431309.1:p.Val21Ile
ENST00000525229.5:c.*298_*299delinsTA	ENSP00000431132.1:n.*298_*299delinsTA
ENST00000528674.5:c.*244_*245delinsTA	ENSP00000434060.1:n.*244_*245delinsTA
ENST00000529030.1:c.*330_*331delinsTA	ENSP00000432486.1:n.*330_*331delinsTA
ENST00000532554.5:n.131-149_131-148delinsTA
ENST00000532681.5:c.60_61delinsTA	ENSP00000434654.1:p.Val21Ile
ENST00000533151.5:c.149-1033_149-1032delinsTA	ENSP00000433045.1:n.149-1033_149-1032delinsTA
XM_011520474.1:c.222_223delinsTA	XP_011518776.1:p.Val75Ile
NM_004813.4:c.345_346delinsTA MANE Select	NP_004804.2:p.Val116Ile
NM_057174.3:c.345_346delinsTA	NP_476515.2:p.Val116Ile