Canonical Allele Identifier: CA1590297718
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994580_148994604delinsGTGGGTGGTTGGGTGGTTAGATGGT , CM000667.2:g.148994580_148994604delinsGTGGGTGGTTGGGTGGTTAGATGGT GRCh38
NC_000005.9:g.148374143_148374167delinsGTGGGTGGTTGGGTGGTTAGATGGT , CM000667.1:g.148374143_148374167delinsGTGGGTGGTTGGGTGGTTAGATGGT GRCh37
NC_000005.8:g.148354336_148354360delinsGTGGGTGGTTGGGTGGTTAGATGGT NCBI36
NG_007947.2:g.73571_73595delinsACCATCTAACCACCCAACCACCCAC , LRG_269:g.73571_73595delinsACCATCTAACCACCCAACCACCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC MANE Select ENSP00000423660.1:n.*10107_*10131delinsACCATCTAACCACCCAACCACC...
ENST00000504690.5:c.*12+9122_*12+9146delinsACCATCTAACCACCCAACCACCCAC ENSP00000425627.1:n.*12+9122_*12+9146delinsACCATCTAACCACCCAAC...
ENST00000510350.1:n.231+12277_231+12301delinsACCATCTAACCACCCAACCACCCAC
NM_024577.3:c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC , LRG_269t1:c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC NP_078853.2:n.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC
NM_024577.4:c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC MANE Select NP_078853.2:n.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC