Canonical Allele Identifier: CA215070
Gene: AP5Z1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4781213_4781216delinsTGCTGTAAACTGTAACTGTAAA , CM000669.2:g.4781213_4781216delinsTGCTGTAAACTGTAACTGTAAA GRCh38
NC_000007.13:g.4820844_4820847delinsTGCTGTAAACTGTAACTGTAAA , CM000669.1:g.4820844_4820847delinsTGCTGTAAACTGTAACTGTAAA GRCh37
NC_000007.12:g.4787370_4787373delinsTGCTGTAAACTGTAACTGTAAA NCBI36
NG_028111.1:g.10583_10586delinsTGCTGTAAACTGTAACTGTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000477680.6:n.125-2103_125-2100delinsTGCTGTAAACTGTAACTGTAAA
ENST00000647984.1:c.80_83delinsTGCTGTAAACTGTAACTGTAAA ENSP00000497794.1:p.Arg27LeufsTer3
ENST00000648925.1:c.80_83delinsTGCTGTAAACTGTAACTGTAAA ENSP00000496830.1:p.Arg27LeufsTer3
ENST00000649063.2:c.80_83delinsTGCTGTAAACTGTAACTGTAAA MANE Select ENSP00000497815.1:p.Arg27LeufsTer3
ENST00000650310.1:c.80_83delinsTGCTGTAAACTGTAACTGTAAA ENSP00000497395.1:p.Arg27LeufsTer3
ENST00000650451.1:c.80_83delinsTGCTGTAAACTGTAACTGTAAA ENSP00000496998.1:p.Arg27LeufsTer3
ENST00000348624.4:c.80_83delinsTGCTGTAAACTGTAACTGTAAA ENSP00000297562.4:p.Arg27LeufsTer3
ENST00000477680.5:n.125-2103_125-2100delinsTGCTGTAAACTGTAACTGTAAA
ENST00000496303.5:n.144_147delinsTGCTGTAAACTGTAACTGTAAA
NM_014855.2:c.80_83delinsTGCTGTAAACTGTAACTGTAAA NP_055670.1:p.Arg27LeufsTer3
XR_242109.1:n.105_108delinsTGCTGTAAACTGTAACTGTAAA
NM_001364858.1:c.-202_-199delinsTGCTGTAAACTGTAACTGTAAA NP_001351787.1:n.-202_-199delinsTGCTGTAAACTGTAACTGTAAA
NM_014855.3:c.80_83delinsTGCTGTAAACTGTAACTGTAAA MANE Select NP_055670.1:p.Arg27LeufsTer3
NR_157345.1:n.173_176delinsTGCTGTAAACTGTAACTGTAAA
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