Canonical Allele Identifier: CA2787135289
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314093_30314095del , CM000672.2:g.30314093_30314095del GRCh38
NC_000010.10:g.30603022_30603024del , CM000672.1:g.30603022_30603024del GRCh37
NC_000010.9:g.30643028_30643030del NCBI36
NG_028096.1:g.40244_40246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-124_1387-122del MANE Select ENSP00000263063.3:n.1387-124_1387-122del
ENST00000263063.8:c.1387-124_1387-122del ENSP00000263063.3:n.1387-124_1387-122del
ENST00000488290.5:n.3142-124_3142-122del
NM_018109.3:c.1387-124_1387-122del NP_060579.3:n.1387-124_1387-122del
NM_018109.4:c.1387-124_1387-122del MANE Select NP_060579.3:n.1387-124_1387-122del