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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:
CA563537162
Gene: SH3TC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1319240455
gnomAD v2:
5-148374192-TG-T
gnomAD v3:
5-148994629-TG-T
gnomAD v4:
5-148994629-TG-T
MyVariant Identifiers:
chr5:g.148374193del (hg19)
chr5:g.148994630del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148994631del , CM000667.2:g.148994631del
GRCh38
NC_000005.9:g.148374194del , CM000667.1:g.148374194del
GRCh37
NC_000005.8:g.148354387del
NCBI36
NG_007947.2:g.73545del , LRG_269:g.73545del
Transcript Alleles
HGVS
Amino-acid change
ENST00000515425.6:c.*10081del
MANE Select
ENSP00000423660.1:n.*10081del
ENST00000504690.5:c.*12+9096del
ENSP00000425627.1:n.*12+9096del
ENST00000510350.1:n.231+12251del
NM_024577.3:c.*10081del , LRG_269t1:c.*10081del
NP_078853.2:n.*10081del
NM_024577.4:c.*10081del
MANE Select
NP_078853.2:n.*10081del
Search 100 bp 5'
Search 100 bp 3'