Canonical Allele Identifier: CA663650926
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1255850488
gnomAD v3: 10-30314094-ATTTC-A
gnomAD v4: 10-30314094-ATTTC-A
MyVariant Identifiers: chr10:g.30603024_30603027del (hg19) chr10:g.30314095_30314098del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314100_30314103del , CM000672.2:g.30314100_30314103del GRCh38
NC_000010.10:g.30603029_30603032del , CM000672.1:g.30603029_30603032del GRCh37
NC_000010.9:g.30643035_30643038del NCBI36
NG_028096.1:g.40241_40244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-127_1387-124del MANE Select ENSP00000263063.3:n.1387-127_1387-124del
ENST00000263063.8:c.1387-127_1387-124del ENSP00000263063.3:n.1387-127_1387-124del
ENST00000488290.5:n.3142-127_3142-124del
NM_018109.3:c.1387-127_1387-124del NP_060579.3:n.1387-127_1387-124del
NM_018109.4:c.1387-127_1387-124del MANE Select NP_060579.3:n.1387-127_1387-124del
Search 100 bp 5'
Search 100 bp 3'