Canonical Allele Identifier: CA926395138
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840622206
gnomAD v3: 10-30313455-AC-A
gnomAD v4: 10-30313455-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313456del , CM000672.2:g.30313456del GRCh38
NC_000010.10:g.30602385del , CM000672.1:g.30602385del GRCh37
NC_000010.9:g.30642391del NCBI36
NG_028096.1:g.40883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*153del MANE Select ENSP00000263063.3:n.*153del
ENST00000263063.8:c.*153del ENSP00000263063.3:n.*153del
ENST00000488290.5:n.3657del
NM_018109.3:c.*153del NP_060579.3:n.*153del
NM_018109.4:c.*153del MANE Select NP_060579.3:n.*153del
Search 100 bp 5'
Search 100 bp 3'