Canonical Allele Identifier: CA342377
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149047914_149047924delinsTTACTGG , CM000667.2:g.149047914_149047924delinsTTACTGG GRCh38
NC_000005.9:g.148427477_148427487delinsTTACTGG , CM000667.1:g.148427477_148427487delinsTTACTGG GRCh37
NC_000005.8:g.148407670_148407680delinsTTACTGG NCBI36
NG_007947.2:g.20251_20261delinsCCAGTAA , LRG_269:g.20251_20261delinsCCAGTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.165_175delinsCCAGTAA
ENST00000515425.6:c.217_227delinsCCAGTAA MANE Select ENSP00000423660.1:p.Ala73ProfsTer?
ENST00000674983.1:c.217_227delinsCCAGTAA ENSP00000502387.1:p.Ala73ProfsTer?
ENST00000675793.1:c.217_227delinsCCAGTAA ENSP00000502039.1:p.Ala73ProfsTer?
ENST00000676056.1:c.217_227delinsCCAGTAA ENSP00000501827.1:p.Ala73ProfsTer?
ENST00000323829.9:c.217_227delinsCCAGTAA ENSP00000313025.5:p.Ala73ProfsTer?
ENST00000504091.1:n.253_263delinsCCAGTAA
ENST00000504690.5:c.217_227delinsCCAGTAA ENSP00000425627.1:p.Ala73ProfsTer?
ENST00000511307.5:c.217_227delinsCCAGTAA ENSP00000421420.1:p.Ala73ProfsTer?
ENST00000511949.5:n.287_297delinsCCAGTAA
ENST00000512049.5:c.217_227delinsCCAGTAA ENSP00000421860.1:p.Ala73ProfsTer?
ENST00000513604.5:c.217_227delinsCCAGTAA ENSP00000423111.1:p.Ala73ProfsTer?
ENST00000515425.5:c.217_227delinsCCAGTAA ENSP00000423660.1:p.Ala73ProfsTer?
NM_024577.3:c.217_227delinsCCAGTAA , LRG_269t1:c.217_227delinsCCAGTAA NP_078853.2:p.Ala73ProfsTer?
NM_024577.4:c.217_227delinsCCAGTAA MANE Select NP_078853.2:p.Ala73ProfsTer?