Canonical Allele Identifier: CA592781545
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1488476266
gnomAD v2: 10-30602973-TA-T
gnomAD v3: 10-30314044-TA-T
gnomAD v4: 10-30314044-TA-T
MyVariant Identifiers: chr10:g.30602974del (hg19) chr10:g.30314045del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314048del , CM000672.2:g.30314048del GRCh38
NC_000010.10:g.30602977del , CM000672.1:g.30602977del GRCh37
NC_000010.9:g.30642983del NCBI36
NG_028096.1:g.40294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-74del MANE Select ENSP00000263063.3:n.1387-74del
ENST00000263063.8:c.1387-74del ENSP00000263063.3:n.1387-74del
ENST00000488290.5:n.3142-74del
NM_018109.3:c.1387-74del NP_060579.3:n.1387-74del
NM_018109.4:c.1387-74del MANE Select NP_060579.3:n.1387-74del
Search 100 bp 5'
Search 100 bp 3'