Canonical Allele Identifier: CA851934578
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1399948301
gnomAD v3: 8-42838763-TA-T
gnomAD v4: 8-42838763-TA-T
MyVariant Identifiers: chr8:g.42693907del (hg19) chr8:g.42838764del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838764del , CM000670.2:g.42838764del GRCh38
NC_000008.10:g.42693907del , CM000670.1:g.42693907del GRCh37
NC_000008.9:g.42813064del NCBI36
NG_011837.1:g.9568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+422del MANE Select ENSP00000254250.3:n.267+422del
ENST00000345117.2:c.72-428del ENSP00000344966.2:n.72-428del
ENST00000529779.1:c.267+422del ENSP00000433912.1:n.267+422del
NM_018105.2:c.267+422del NP_060575.1:n.267+422del
NM_199003.1:c.72-428del NP_945354.1:n.72-428del
NM_018105.3:c.267+422del MANE Select NP_060575.1:n.267+422del
NM_199003.2:c.72-428del NP_945354.1:n.72-428del
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