Canonical Allele Identifier: CA1968698292

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910375_45910396delinsACAGCACCTCACCCCTGCGGCC , CM000673.2:g.45910375_45910396delinsACAGCACCTCACCCCTGCGGCC	GRCh38
NC_000011.9:g.45931926_45931947delinsACAGCACCTCACCCCTGCGGCC , CM000673.1:g.45931926_45931947delinsACAGCACCTCACCCCTGCGGCC	GRCh37
NC_000011.8:g.45888502_45888523delinsACAGCACCTCACCCCTGCGGCC	NCBI36
NG_008460.1:g.12728_12749delinsGGCCGCAGGGGTGAGGTGCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT MANE Select	ENSP00000368024.5:n.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT...
ENST00000241041.7:c.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCTGT	ENSP00000241041.3:n.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCT...
ENST00000378750.9:c.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT	ENSP00000368024.5:n.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT...
ENST00000523721.2:n.183-84_183-63delinsGGCCGCAGGGGTGAGGTGCTGT
ENST00000532681.5:c.668-84_668-63delinsGGCCGCAGGGGTGAGGTGCTGT	ENSP00000434654.1:n.668-84_668-63delinsGGCCGCAGGGGTGAGGTGCTGT...
NM_004813.2:c.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT	NP_004804.1:n.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT
NM_057174.2:c.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCTGT	NP_476515.1:n.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCTGT
XM_011520474.1:c.830-84_830-63delinsGGCCGCAGGGGTGAGGTGCTGT	XP_011518776.1:n.830-84_830-63delinsGGCCGCAGGGGTGAGGTGCTGT
NM_004813.3:c.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT	NP_004804.1:n.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT
NM_004813.4:c.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT MANE Select	NP_004804.2:n.953-84_953-63delinsGGCCGCAGGGGTGAGGTGCTGT
NM_057174.3:c.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCTGT	NP_476515.2:n.953-219_953-198delinsGGCCGCAGGGGTGAGGTGCTGT