×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA917606307
Gene: SH3TC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554119361
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148994661del , CM000667.2:g.148994661del
GRCh38
NC_000005.9:g.148374224del , CM000667.1:g.148374224del
GRCh37
NC_000005.8:g.148354417del
NCBI36
NG_007947.2:g.73515del , LRG_269:g.73515del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000515425.6:c.*10051del
MANE Select
ENSP00000423660.1:n.*10051del
ENST00000504690.5:c.*12+9066del
ENSP00000425627.1:n.*12+9066del
ENST00000510350.1:n.231+12221del
NM_024577.3:c.*10051del , LRG_269t1:c.*10051del
NP_078853.2:n.*10051del
NM_024577.4:c.*10051del
MANE Select
NP_078853.2:n.*10051del
Search 100 bp 5'
Search 100 bp 3'