Canonical Allele Identifier: CA2787135228
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313306_30313393del , CM000672.2:g.30313306_30313393del GRCh38
NC_000010.10:g.30602235_30602322del , CM000672.1:g.30602235_30602322del GRCh37
NC_000010.9:g.30642241_30642328del NCBI36
NG_028096.1:g.40951_41038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*221_*308del MANE Select ENSP00000263063.3:n.*221_*308del
ENST00000263063.8:c.*221_*308del ENSP00000263063.3:n.*221_*308del
ENST00000488290.5:n.3725_3812del
NM_018109.3:c.*221_*308del NP_060579.3:n.*221_*308del
NM_018109.4:c.*221_*308del MANE Select NP_060579.3:n.*221_*308del