Canonical Allele Identifier: CA2787135229
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313306_30313386del , CM000672.2:g.30313306_30313386del GRCh38
NC_000010.10:g.30602235_30602315del , CM000672.1:g.30602235_30602315del GRCh37
NC_000010.9:g.30642241_30642321del NCBI36
NG_028096.1:g.40957_41037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*227_*307del MANE Select ENSP00000263063.3:n.*227_*307del
ENST00000263063.8:c.*227_*307del ENSP00000263063.3:n.*227_*307del
ENST00000488290.5:n.3731_3811del
NM_018109.3:c.*227_*307del NP_060579.3:n.*227_*307del
NM_018109.4:c.*227_*307del MANE Select NP_060579.3:n.*227_*307del