Canonical Allele Identifier: CA592449186
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1241988687
gnomAD v2: 10-30602333-T-TTTA
gnomAD v3: 10-30313404-T-TTTA
gnomAD v4: 10-30313404-T-TTTA
MyVariant Identifiers: chr10:g.30602333_30602334insTTA (hg19) chr10:g.30313404_30313405insTTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313405_30313406insTAT , CM000672.2:g.30313405_30313406insTAT GRCh38
NC_000010.10:g.30602334_30602335insTAT , CM000672.1:g.30602334_30602335insTAT GRCh37
NC_000010.9:g.30642340_30642341insTAT NCBI36
NG_028096.1:g.40934_40935insTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*204_*205insTAA MANE Select ENSP00000263063.3:n.*204_*205insTAA
ENST00000263063.8:c.*204_*205insTAA ENSP00000263063.3:n.*204_*205insTAA
ENST00000488290.5:n.3708_3709insTAA
NM_018109.3:c.*204_*205insTAA NP_060579.3:n.*204_*205insTAA
NM_018109.4:c.*204_*205insTAA MANE Select NP_060579.3:n.*204_*205insTAA
Search 100 bp 5'
Search 100 bp 3'