Canonical Allele Identifier: CA851934712
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1229578258
gnomAD v3: 8-42839097-T-TA
gnomAD v4: 8-42839097-T-TA
MyVariant Identifiers: chr8:g.42694240_42694241insA (hg19) chr8:g.42839097_42839098insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839099dup , CM000670.2:g.42839099dup GRCh38
NC_000008.10:g.42694242dup , CM000670.1:g.42694242dup GRCh37
NC_000008.9:g.42813399dup NCBI36
NG_011837.1:g.9234dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+88dup MANE Select ENSP00000254250.3:n.267+88dup
ENST00000345117.2:c.72-762dup ENSP00000344966.2:n.72-762dup
ENST00000529779.1:c.267+88dup ENSP00000433912.1:n.267+88dup
NM_018105.2:c.267+88dup NP_060575.1:n.267+88dup
NM_199003.1:c.72-762dup NP_945354.1:n.72-762dup
NM_018105.3:c.267+88dup MANE Select NP_060575.1:n.267+88dup
NM_199003.2:c.72-762dup NP_945354.1:n.72-762dup
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Search 100 bp 3'