Canonical Allele Identifier: CA205301268
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs143913224
gnomAD v2: 10-30603093-T-TC
gnomAD v3: 10-30314164-T-TC
gnomAD v4: 10-30314164-T-TC
MyVariant Identifiers: chr10:g.30603093_30603094insC (hg19) chr10:g.30314164_30314165insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314167dup , CM000672.2:g.30314167dup GRCh38
NC_000010.10:g.30603096dup , CM000672.1:g.30603096dup GRCh37
NC_000010.9:g.30643102dup NCBI36
NG_028096.1:g.40174dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-194dup MANE Select ENSP00000263063.3:n.1387-194dup
ENST00000263063.8:c.1387-194dup ENSP00000263063.3:n.1387-194dup
ENST00000488290.5:n.3142-194dup
NM_018109.3:c.1387-194dup NP_060579.3:n.1387-194dup
NM_018109.4:c.1387-194dup MANE Select NP_060579.3:n.1387-194dup
Search 100 bp 5'
Search 100 bp 3'