Canonical Allele Identifier: CA1113244374
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1802665939
gnomAD v3: 8-42838888-G-GA
gnomAD v4: 8-42838888-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838895dup , CM000670.2:g.42838895dup GRCh38
NC_000008.10:g.42694038dup , CM000670.1:g.42694038dup GRCh37
NC_000008.9:g.42813195dup NCBI36
NG_011837.1:g.9443dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+297dup MANE Select ENSP00000254250.3:n.267+297dup
ENST00000345117.2:c.72-553dup ENSP00000344966.2:n.72-553dup
ENST00000529779.1:c.267+297dup ENSP00000433912.1:n.267+297dup
NM_018105.2:c.267+297dup NP_060575.1:n.267+297dup
NM_199003.1:c.72-553dup NP_945354.1:n.72-553dup
NM_018105.3:c.267+297dup MANE Select NP_060575.1:n.267+297dup
NM_199003.2:c.72-553dup NP_945354.1:n.72-553dup
Search 100 bp 5'
Search 100 bp 3'