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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:
CA1169462329
Gene: TACSTD2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.58576450_58576452delinsAAT , CM000663.2:g.58576450_58576452delinsAAT
GRCh38
NC_000001.10:g.59042122_59042124delinsAAT , CM000663.1:g.59042122_59042124delinsAAT
GRCh37
NC_000001.9:g.58814710_58814712delinsAAT
NCBI36
NG_016237.1:g.6043_6045delinsATT
Transcript Alleles
HGVS
Amino-acid change
ENST00000371225.4:c.705_707delinsATT
MANE Select
ENSP00000360269.2:p.Leu235=
ENST00000371225.3:c.705_707delinsATT
ENSP00000360269.2:p.Leu235=
NM_002353.2:c.705_707delinsATT
NP_002344.2:p.Leu235=
NM_002353.3:c.705_707delinsATT
MANE Select
NP_002344.2:p.Leu235=
Search 100 bp 5'
Search 100 bp 3'