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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:
CA1082791805
Gene: SH3TC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1753475664
gnomAD v3:
5-148994637-TG-T
gnomAD v4:
5-148994637-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148994639del , CM000667.2:g.148994639del
GRCh38
NC_000005.9:g.148374202del , CM000667.1:g.148374202del
GRCh37
NC_000005.8:g.148354395del
NCBI36
NG_007947.2:g.73537del , LRG_269:g.73537del
Transcript Alleles
HGVS
Amino-acid change
ENST00000515425.6:c.*10073del
MANE Select
ENSP00000423660.1:n.*10073del
ENST00000504690.5:c.*12+9088del
ENSP00000425627.1:n.*12+9088del
ENST00000510350.1:n.231+12243del
NM_024577.3:c.*10073del , LRG_269t1:c.*10073del
NP_078853.2:n.*10073del
NM_024577.4:c.*10073del
MANE Select
NP_078853.2:n.*10073del
Search 100 bp 5'
Search 100 bp 3'