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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:
CA1880971168
Gene: TOR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs2030959487
gnomAD v3:
9-129813810-CA-C
gnomAD v4:
9-129813810-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129813811del , CM000671.2:g.129813811del
GRCh38
NC_000009.11:g.132576090del , CM000671.1:g.132576090del
GRCh37
NC_000009.10:g.131615911del
NCBI36
NG_008049.1:g.15352del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351698.5:c.*161del
MANE Select
ENSP00000345719.4:n.*161del
ENST00000651202.1:c.*428del
ENSP00000498222.1:n.*428del
ENST00000351698.4:c.*161del
ENSP00000345719.4:n.*161del
ENST00000474192.1:n.744del
NM_000113.2:c.*161del
NP_000104.1:n.*161del
XR_929731.3:n.1355del
NM_000113.3:c.*161del
MANE Select
NP_000104.1:n.*161del
Search 100 bp 5'
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