Canonical Allele Identifier: CA926395447
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840636150
gnomAD v3: 10-30314361-TGAA-T
gnomAD v4: 10-30314361-TGAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314364_30314366del , CM000672.2:g.30314364_30314366del GRCh38
NC_000010.10:g.30603293_30603295del , CM000672.1:g.30603293_30603295del GRCh37
NC_000010.9:g.30643299_30643301del NCBI36
NG_028096.1:g.39975_39977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-393_1387-391del MANE Select ENSP00000263063.3:n.1387-393_1387-391del
ENST00000263063.8:c.1387-393_1387-391del ENSP00000263063.3:n.1387-393_1387-391del
ENST00000488290.5:n.3142-393_3142-391del
NM_018109.3:c.1387-393_1387-391del NP_060579.3:n.1387-393_1387-391del
NM_018109.4:c.1387-393_1387-391del MANE Select NP_060579.3:n.1387-393_1387-391del
Search 100 bp 5'
Search 100 bp 3'