Canonical Allele Identifier: CA663651126
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1214569669
gnomAD v4: 10-30314341-T-TA
MyVariant Identifiers: chr10:g.30603270_30603271insA (hg19) chr10:g.30314341_30314342insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30314347dup , CM000672.2:g.30314347dup GRCh38
NC_000010.10:g.30603276dup , CM000672.1:g.30603276dup GRCh37
NC_000010.9:g.30643282dup NCBI36
NG_028096.1:g.39997dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1387-371dup MANE Select ENSP00000263063.3:n.1387-371dup
ENST00000263063.8:c.1387-371dup ENSP00000263063.3:n.1387-371dup
ENST00000488290.5:n.3142-371dup
NM_018109.3:c.1387-371dup NP_060579.3:n.1387-371dup
NM_018109.4:c.1387-371dup MANE Select NP_060579.3:n.1387-371dup
Search 100 bp 5'
Search 100 bp 3'