Canonical Allele Identifier: CA2574454080
Gene: MTPAP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313690_30313691del , CM000672.2:g.30313690_30313691del GRCh38
NC_000010.10:g.30602619_30602620del , CM000672.1:g.30602619_30602620del GRCh37
NC_000010.9:g.30642625_30642626del NCBI36
NG_028096.1:g.40648_40649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1667_1668del MANE Select ENSP00000263063.3:p.Asn556IlefsTer8
ENST00000263063.8:c.1667_1668del ENSP00000263063.3:p.Asn556IlefsTer8
ENST00000488290.5:n.3422_3423del
NM_018109.3:c.1667_1668del NP_060579.3:p.Asn556IlefsTer8
NM_018109.4:c.1667_1668del MANE Select NP_060579.3:p.Asn556IlefsTer8
Search 100 bp 5'
Search 100 bp 3'