Canonical Allele Identifier: CA2608695841
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313743-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313745_30313746del , CM000672.2:g.30313745_30313746del GRCh38
NC_000010.10:g.30602674_30602675del , CM000672.1:g.30602674_30602675del GRCh37
NC_000010.9:g.30642680_30642681del NCBI36
NG_028096.1:g.40594_40595del

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1613_1614del MANE Select ENSP00000263063.3:p.Arg538LysfsTer10
ENST00000263063.8:c.1613_1614del ENSP00000263063.3:p.Arg538LysfsTer10
ENST00000488290.5:n.3368_3369del
NM_018109.3:c.1613_1614del NP_060579.3:p.Arg538LysfsTer10
NM_018109.4:c.1613_1614del MANE Select NP_060579.3:p.Arg538LysfsTer10
Search 100 bp 5'
Search 100 bp 3'