Canonical Allele Identifier: CA1968698085

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45909977_45909979delinsGAA , CM000673.2:g.45909977_45909979delinsGAA	GRCh38
NC_000011.9:g.45931528_45931530delinsGAA , CM000673.1:g.45931528_45931530delinsGAA	GRCh37
NC_000011.8:g.45888104_45888106delinsGAA	NCBI36
NG_008460.1:g.13145_13147delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*275_*277delinsTTC MANE Select	ENSP00000368024.5:n.*275_*277delinsTTC
ENST00000241041.7:c.*110_*112delinsTTC	ENSP00000241041.3:n.*110_*112delinsTTC
NM_004813.2:c.*275_*277delinsTTC	NP_004804.1:n.*275_*277delinsTTC
NM_057174.2:c.*110_*112delinsTTC	NP_476515.1:n.*110_*112delinsTTC
NM_004813.3:c.*275_*277delinsTTC	NP_004804.1:n.*275_*277delinsTTC
NM_004813.4:c.*275_*277delinsTTC MANE Select	NP_004804.2:n.*275_*277delinsTTC
NM_057174.3:c.*110_*112delinsTTC	NP_476515.2:n.*110_*112delinsTTC