Canonical Allele Identifier: CA176034467
Gene: THAP1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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