Canonical Allele Identifier: CA2608695688

Gene: MTPAP

Linked Data

• gnomAD v4: 10-30313574-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313574_30313575insTT , CM000672.2:g.30313574_30313575insTT	GRCh38
NC_000010.10:g.30602503_30602504insTT , CM000672.1:g.30602503_30602504insTT	GRCh37
NC_000010.9:g.30642509_30642510insTT	NCBI36
NG_028096.1:g.40764_40765insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.*34_*35insAA MANE Select	ENSP00000263063.3:n.*34_*35insAA
ENST00000263063.8:c.*34_*35insAA	ENSP00000263063.3:n.*34_*35insAA
ENST00000488290.5:n.3538_3539insAA
NM_018109.3:c.*34_*35insAA	NP_060579.3:n.*34_*35insAA
NM_018109.4:c.*34_*35insAA MANE Select	NP_060579.3:n.*34_*35insAA