Canonical Allele Identifier: CA205301358
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1030160027
gnomAD v2: 10-30603258-G-GA
gnomAD v3: 10-30314329-G-GA
gnomAD v4: 10-30314329-G-GA
MyVariant Identifiers: chr10:g.30603258_30603259insA (hg19) chr10:g.30314329_30314330insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314336dup , CM000672.2:g.30314336dup GRCh38
NC_000010.10:g.30603265dup , CM000672.1:g.30603265dup GRCh37
NC_000010.9:g.30643271dup NCBI36
NG_028096.1:g.40009dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-359dup MANE Select ENSP00000263063.3:n.1387-359dup
ENST00000263063.8:c.1387-359dup ENSP00000263063.3:n.1387-359dup
ENST00000488290.5:n.3142-359dup
NM_018109.3:c.1387-359dup NP_060579.3:n.1387-359dup
NM_018109.4:c.1387-359dup MANE Select NP_060579.3:n.1387-359dup
Search 100 bp 5'
Search 100 bp 3'