Canonical Allele Identifier: CA1590297729
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994592_148994612delinsGTGGTTAGATGGTTGGTTGGT , CM000667.2:g.148994592_148994612delinsGTGGTTAGATGGTTGGTTGGT GRCh38
NC_000005.9:g.148374155_148374175delinsGTGGTTAGATGGTTGGTTGGT , CM000667.1:g.148374155_148374175delinsGTGGTTAGATGGTTGGTTGGT GRCh37
NC_000005.8:g.148354348_148354368delinsGTGGTTAGATGGTTGGTTGGT NCBI36
NG_007947.2:g.73563_73583delinsACCAACCAACCATCTAACCAC , LRG_269:g.73563_73583delinsACCAACCAACCATCTAACCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10099_*10119delinsACCAACCAACCATCTAACCAC MANE Select ENSP00000423660.1:n.*10099_*10119delinsACCAACCAACCATCTAACCAC
ENST00000504690.5:c.*12+9114_*12+9134delinsACCAACCAACCATCTAACCAC ENSP00000425627.1:n.*12+9114_*12+9134delinsACCAACCAACCATCTAAC...
ENST00000510350.1:n.231+12269_231+12289delinsACCAACCAACCATCTAACCAC
NM_024577.3:c.*10099_*10119delinsACCAACCAACCATCTAACCAC , LRG_269t1:c.*10099_*10119delinsACCAACCAACCATCTAACCAC NP_078853.2:n.*10099_*10119delinsACCAACCAACCATCTAACCAC
NM_024577.4:c.*10099_*10119delinsACCAACCAACCATCTAACCAC MANE Select NP_078853.2:n.*10099_*10119delinsACCAACCAACCATCTAACCAC