Canonical Allele Identifier: CA1899313944
Gene: MTPAP HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313662_30313664delinsTTC , CM000672.2:g.30313662_30313664delinsTTC GRCh38
NC_000010.10:g.30602591_30602593delinsTTC , CM000672.1:g.30602591_30602593delinsTTC GRCh37
NC_000010.9:g.30642597_30642599delinsTTC NCBI36
NG_028096.1:g.40675_40677delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1694_1696delinsGAA MANE Select ENSP00000263063.3:p.Arg565=
ENST00000263063.8:c.1694_1696delinsGAA ENSP00000263063.3:p.Arg565=
ENST00000488290.5:n.3449_3451delinsGAA
NM_018109.3:c.1694_1696delinsGAA NP_060579.3:p.Arg565=
NM_018109.4:c.1694_1696delinsGAA MANE Select NP_060579.3:p.Arg565=
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