Canonical Allele Identifier: CA2574806436
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910394-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910397del , CM000673.2:g.45910397del GRCh38
NC_000011.9:g.45931948del , CM000673.1:g.45931948del GRCh37
NC_000011.8:g.45888524del NCBI36
NG_008460.1:g.12729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.953-83del MANE Select ENSP00000368024.5:n.953-83del
ENST00000241041.7:c.953-218del ENSP00000241041.3:n.953-218del
ENST00000378750.9:c.953-83del ENSP00000368024.5:n.953-83del
ENST00000523721.2:n.183-83del
ENST00000532681.5:c.668-83del ENSP00000434654.1:n.668-83del
NM_004813.2:c.953-83del NP_004804.1:n.953-83del
NM_057174.2:c.953-218del NP_476515.1:n.953-218del
XM_011520474.1:c.830-83del XP_011518776.1:n.830-83del
NM_004813.3:c.953-83del NP_004804.1:n.953-83del
NM_004813.4:c.953-83del MANE Select NP_004804.2:n.953-83del
NM_057174.3:c.953-218del NP_476515.2:n.953-218del
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