Canonical Allele Identifier: CA2787135261
Gene: MTPAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313666_30313668del , CM000672.2:g.30313666_30313668del GRCh38
NC_000010.10:g.30602595_30602597del , CM000672.1:g.30602595_30602597del GRCh37
NC_000010.9:g.30642601_30642603del NCBI36
NG_028096.1:g.40672_40674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1691_1693del MANE Select ENSP00000263063.3:p.Asn564del
ENST00000263063.8:c.1691_1693del ENSP00000263063.3:p.Asn564del
ENST00000488290.5:n.3446_3448del
NM_018109.3:c.1691_1693del NP_060579.3:p.Asn564del
NM_018109.4:c.1691_1693del MANE Select NP_060579.3:p.Asn564del