Canonical Allele Identifier: CA1899314209
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1840635648

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314281_30314285del , CM000672.2:g.30314281_30314285del GRCh38
NC_000010.10:g.30603210_30603214del , CM000672.1:g.30603210_30603214del GRCh37
NC_000010.9:g.30643216_30643220del NCBI36
NG_028096.1:g.40055_40059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-313_1387-309del MANE Select ENSP00000263063.3:n.1387-313_1387-309del
ENST00000263063.8:c.1387-313_1387-309del ENSP00000263063.3:n.1387-313_1387-309del
ENST00000488290.5:n.3142-313_3142-309del
NM_018109.3:c.1387-313_1387-309del NP_060579.3:n.1387-313_1387-309del
NM_018109.4:c.1387-313_1387-309del MANE Select NP_060579.3:n.1387-313_1387-309del