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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2687126243
Gene: THAP1
HGNC
NCBI
Linked Data
gnomAD v4:
8-42839147-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.42839150del , CM000670.2:g.42839150del
GRCh38
NC_000008.10:g.42694293del , CM000670.1:g.42694293del
GRCh37
NC_000008.9:g.42813450del
NCBI36
NG_011837.1:g.9184del
Transcript Alleles
HGVS
Amino-acid change
ENST00000254250.7:c.267+38del
MANE Select
ENSP00000254250.3:n.267+38del
ENST00000345117.2:c.72-812del
ENSP00000344966.2:n.72-812del
ENST00000529779.1:c.267+38del
ENSP00000433912.1:n.267+38del
NM_018105.2:c.267+38del
NP_060575.1:n.267+38del
NM_199003.1:c.72-812del
NP_945354.1:n.72-812del
NM_018105.3:c.267+38del
MANE Select
NP_060575.1:n.267+38del
NM_199003.2:c.72-812del
NP_945354.1:n.72-812del
Search 100 bp 5'
Search 100 bp 3'