Canonical Allele Identifier: CA2574806367

Gene: PEX16

Linked Data

• gnomAD v4: 11-45910053-TGCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910056_45910059del , CM000673.2:g.45910056_45910059del	GRCh38
NC_000011.9:g.45931607_45931610del , CM000673.1:g.45931607_45931610del	GRCh37
NC_000011.8:g.45888183_45888186del	NCBI36
NG_008460.1:g.13067_13070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*197_*200del MANE Select	ENSP00000368024.5:n.*197_*200del
ENST00000241041.7:c.*32_*35del	ENSP00000241041.3:n.*32_*35del
NM_004813.2:c.*197_*200del	NP_004804.1:n.*197_*200del
NM_057174.2:c.*32_*35del	NP_476515.1:n.*32_*35del
NM_004813.3:c.*197_*200del	NP_004804.1:n.*197_*200del
NM_004813.4:c.*197_*200del MANE Select	NP_004804.2:n.*197_*200del
NM_057174.3:c.*32_*35del	NP_476515.2:n.*32_*35del