Canonical Allele Identifier: CA581616610
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1563644638
gnomAD v2: 8-42693940-TTGAATA-T
gnomAD v3: 8-42838797-TTGAATA-T
gnomAD v4: 8-42838797-TTGAATA-T
MyVariant Identifiers: chr8:g.42693941_42693946del (hg19) chr8:g.42838798_42838803del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838798_42838803del , CM000670.2:g.42838798_42838803del GRCh38
NC_000008.10:g.42693941_42693946del , CM000670.1:g.42693941_42693946del GRCh37
NC_000008.9:g.42813098_42813103del NCBI36
NG_011837.1:g.9529_9534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+383_267+388del MANE Select ENSP00000254250.3:n.267+383_267+388del
ENST00000345117.2:c.72-467_72-462del ENSP00000344966.2:n.72-467_72-462del
ENST00000529779.1:c.267+383_267+388del ENSP00000433912.1:n.267+383_267+388del
NM_018105.2:c.267+383_267+388del NP_060575.1:n.267+383_267+388del
NM_199003.1:c.72-467_72-462del NP_945354.1:n.72-467_72-462del
NM_018105.3:c.267+383_267+388del MANE Select NP_060575.1:n.267+383_267+388del
NM_199003.2:c.72-467_72-462del NP_945354.1:n.72-467_72-462del
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