Canonical Allele Identifier: CA1899314142
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840634238

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314154_30314156del , CM000672.2:g.30314154_30314156del GRCh38
NC_000010.10:g.30603083_30603085del , CM000672.1:g.30603083_30603085del GRCh37
NC_000010.9:g.30643089_30643091del NCBI36
NG_028096.1:g.40185_40187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-183_1387-181del MANE Select ENSP00000263063.3:n.1387-183_1387-181del
ENST00000263063.8:c.1387-183_1387-181del ENSP00000263063.3:n.1387-183_1387-181del
ENST00000488290.5:n.3142-183_3142-181del
NM_018109.3:c.1387-183_1387-181del NP_060579.3:n.1387-183_1387-181del
NM_018109.4:c.1387-183_1387-181del MANE Select NP_060579.3:n.1387-183_1387-181del