Canonical Allele Identifier: CA581616615
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1236993958
gnomAD v2: 8-42694060-CTGA-C
gnomAD v3: 8-42838917-CTGA-C
gnomAD v4: 8-42838917-CTGA-C
MyVariant Identifiers: chr8:g.42694061_42694063del (hg19) chr8:g.42838918_42838920del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838919_42838921del , CM000670.2:g.42838919_42838921del GRCh38
NC_000008.10:g.42694062_42694064del , CM000670.1:g.42694062_42694064del GRCh37
NC_000008.9:g.42813219_42813221del NCBI36
NG_011837.1:g.9412_9414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+266_267+268del MANE Select ENSP00000254250.3:n.267+266_267+268del
ENST00000345117.2:c.72-584_72-582del ENSP00000344966.2:n.72-584_72-582del
ENST00000529779.1:c.267+266_267+268del ENSP00000433912.1:n.267+266_267+268del
NM_018105.2:c.267+266_267+268del NP_060575.1:n.267+266_267+268del
NM_199003.1:c.72-584_72-582del NP_945354.1:n.72-584_72-582del
NM_018105.3:c.267+266_267+268del MANE Select NP_060575.1:n.267+266_267+268del
NM_199003.2:c.72-584_72-582del NP_945354.1:n.72-584_72-582del
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