Canonical Allele Identifier: CA176034494
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs375112817
gnomAD v2: 8-42693935-TCA-T
gnomAD v3: 8-42838792-TCA-T
gnomAD v4: 8-42838792-TCA-T
MyVariant Identifiers: chr8:g.42693936_42693937del (hg19) chr8:g.42838793_42838794del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838793_42838794del , CM000670.2:g.42838793_42838794del GRCh38
NC_000008.10:g.42693936_42693937del , CM000670.1:g.42693936_42693937del GRCh37
NC_000008.9:g.42813093_42813094del NCBI36
NG_011837.1:g.9538_9539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+392_267+393del MANE Select ENSP00000254250.3:n.267+392_267+393del
ENST00000345117.2:c.72-458_72-457del ENSP00000344966.2:n.72-458_72-457del
ENST00000529779.1:c.267+392_267+393del ENSP00000433912.1:n.267+392_267+393del
NM_018105.2:c.267+392_267+393del NP_060575.1:n.267+392_267+393del
NM_199003.1:c.72-458_72-457del NP_945354.1:n.72-458_72-457del
NM_018105.3:c.267+392_267+393del MANE Select NP_060575.1:n.267+392_267+393del
NM_199003.2:c.72-458_72-457del NP_945354.1:n.72-458_72-457del
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