Canonical Allele Identifier: CA2695205382

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027810_149027826delinsGCCCT , CM000667.2:g.149027810_149027826delinsGCCCT	GRCh38
NC_000005.9:g.148407373_148407389delinsGCCCT , CM000667.1:g.148407373_148407389delinsGCCCT	GRCh37
NC_000005.8:g.148387566_148387582delinsGCCCT	NCBI36
NG_007947.2:g.40349_40365delinsAGGGC , LRG_269:g.40349_40365delinsAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1802_1818delinsAGGGC
ENST00000515425.6:c.1906_1922delinsAGGGC MANE Select	ENSP00000423660.1:p.Cys636_Arg641delinsArgAla
ENST00000675793.1:c.*1190_*1206delinsAGGGC	ENSP00000502039.1:n.*1190_*1206delinsAGGGC
ENST00000676056.1:c.*1416_*1432delinsAGGGC	ENSP00000501827.1:n.*1416_*1432delinsAGGGC
ENST00000323829.9:c.*1294_*1310delinsAGGGC	ENSP00000313025.5:n.*1294_*1310delinsAGGGC
ENST00000504517.5:c.1436_1452delinsAGGGC	ENSP00000421779.1:n.1436_1452delinsAGGGC
ENST00000504690.5:c.1906_1922delinsAGGGC	ENSP00000425627.1:p.Cys636_Arg641delinsArgAla
ENST00000510779.1:c.956_972delinsAGGGC
ENST00000511307.5:c.*1686_*1702delinsAGGGC	ENSP00000421420.1:n.*1686_*1702delinsAGGGC
ENST00000512049.5:c.1885_1901delinsAGGGC	ENSP00000421860.1:p.Cys629_Arg634delinsArgAla
ENST00000513604.5:c.*1294_*1310delinsAGGGC	ENSP00000423111.1:n.*1294_*1310delinsAGGGC
ENST00000515425.5:c.1906_1922delinsAGGGC	ENSP00000423660.1:p.Cys636_Arg641delinsArgAla
NM_024577.3:c.1906_1922delinsAGGGC , LRG_269t1:c.1906_1922delinsAGGGC	NP_078853.2:p.Cys636_Arg641delinsArgAla
NM_024577.4:c.1906_1922delinsAGGGC MANE Select	NP_078853.2:p.Cys636_Arg641delinsArgAla