Canonical Allele Identifier: CA926395133
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840621857
gnomAD v3: 10-30313438-AC-A
gnomAD v4: 10-30313438-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313439del , CM000672.2:g.30313439del GRCh38
NC_000010.10:g.30602368del , CM000672.1:g.30602368del GRCh37
NC_000010.9:g.30642374del NCBI36
NG_028096.1:g.40900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*170del MANE Select ENSP00000263063.3:n.*170del
ENST00000263063.8:c.*170del ENSP00000263063.3:n.*170del
ENST00000488290.5:n.3674del
NM_018109.3:c.*170del NP_060579.3:n.*170del
NM_018109.4:c.*170del MANE Select NP_060579.3:n.*170del
Search 100 bp 5'
Search 100 bp 3'