Canonical Allele Identifier: CA581616606
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs989076391
gnomAD v2: 8-42693884-C-CT
gnomAD v3: 8-42838741-C-CT
gnomAD v4: 8-42838741-C-CT
MyVariant Identifiers: chr8:g.42693885_42693886insT (hg19) chr8:g.42693884_42693885insT (hg19) chr8:g.42838742_42838743insT (hg38) chr8:g.42838741_42838742insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838748dup , CM000670.2:g.42838748dup GRCh38
NC_000008.10:g.42693891dup , CM000670.1:g.42693891dup GRCh37
NC_000008.9:g.42813048dup NCBI36
NG_011837.1:g.9590dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.268-406dup MANE Select ENSP00000254250.3:n.268-406dup
ENST00000345117.2:c.72-406dup ENSP00000344966.2:n.72-406dup
ENST00000529779.1:c.267+444dup ENSP00000433912.1:n.267+444dup
NM_018105.2:c.268-406dup NP_060575.1:n.268-406dup
NM_199003.1:c.72-406dup NP_945354.1:n.72-406dup
NM_018105.3:c.268-406dup MANE Select NP_060575.1:n.268-406dup
NM_199003.2:c.72-406dup NP_945354.1:n.72-406dup
Search 100 bp 5'
Search 100 bp 3'