Canonical Allele Identifier: CA2608695567
Gene: MTPAP HGNC NCBI

Linked Data

gnomAD v4: 10-30313401-GTTTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313402_30313405del , CM000672.2:g.30313402_30313405del GRCh38
NC_000010.10:g.30602331_30602334del , CM000672.1:g.30602331_30602334del GRCh37
NC_000010.9:g.30642337_30642340del NCBI36
NG_028096.1:g.40934_40937del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*204_*207del MANE Select ENSP00000263063.3:n.*204_*207del
ENST00000263063.8:c.*204_*207del ENSP00000263063.3:n.*204_*207del
ENST00000488290.5:n.3708_3711del
NM_018109.3:c.*204_*207del NP_060579.3:n.*204_*207del
NM_018109.4:c.*204_*207del MANE Select NP_060579.3:n.*204_*207del
Search 100 bp 5'
Search 100 bp 3'