Canonical Allele Identifier: CA5458950
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs753764920
ExAC: 10:30602872 G / GTCTCAAAAAAC
MyVariant Identifiers: chr10:g.30602872_30602873insTCTCAAAAAAC (hg19) chr10:g.30313943_30313944insTCTCAAAAAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313943_30313944insTCTCAAAAAAC , CM000672.2:g.30313943_30313944insTCTCAAAAAAC GRCh38
NC_000010.10:g.30602872_30602873insTCTCAAAAAAC , CM000672.1:g.30602872_30602873insTCTCAAAAAAC GRCh37
NC_000010.9:g.30642878_30642879insTCTCAAAAAAC NCBI36
NG_028096.1:g.40395_40396insGTTTTTTGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.1414_1415insGTTTTTTGAGA MANE Select ENSP00000263063.3:p.Ser472CysfsTer19
ENST00000263063.8:c.1414_1415insGTTTTTTGAGA ENSP00000263063.3:p.Ser472CysfsTer19
ENST00000488290.5:n.3169_3170insGTTTTTTGAGA
NM_018109.3:c.1414_1415insGTTTTTTGAGA NP_060579.3:p.Ser472CysfsTer19
NM_018109.4:c.1414_1415insGTTTTTTGAGA MANE Select NP_060579.3:p.Ser472CysfsTer19
Search 100 bp 5'
Search 100 bp 3'