Canonical Allele Identifier: CA1590312628

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027834_149027838delinsGCCTC , CM000667.2:g.149027834_149027838delinsGCCTC	GRCh38
NC_000005.9:g.148407397_148407401delinsGCCTC , CM000667.1:g.148407397_148407401delinsGCCTC	GRCh37
NC_000005.8:g.148387590_148387594delinsGCCTC	NCBI36
NG_007947.2:g.40337_40341delinsGAGGC , LRG_269:g.40337_40341delinsGAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1790_1794delinsGAGGC
ENST00000515425.6:c.1894_1898delinsGAGGC MANE Select	ENSP00000423660.1:p.Glu632=
ENST00000675793.1:c.*1178_*1182delinsGAGGC	ENSP00000502039.1:n.*1178_*1182delinsGAGG...
ENST00000676056.1:c.*1404_*1408delinsGAGGC	ENSP00000501827.1:n.*1404_*1408delinsGAGG...
ENST00000323829.9:c.*1282_*1286delinsGAGGC	ENSP00000313025.5:n.*1282_*1286delinsGAGG...
ENST00000504517.5:c.1424_1428delinsGAGGC	ENSP00000421779.1:n.1424_1428delinsGAGGC
ENST00000504690.5:c.1894_1898delinsGAGGC	ENSP00000425627.1:p.Glu632=
ENST00000510779.1:c.944_948delinsGAGGC
ENST00000511307.5:c.*1674_*1678delinsGAGGC	ENSP00000421420.1:n.*1674_*1678delinsGAGG...
ENST00000512049.5:c.1873_1877delinsGAGGC	ENSP00000421860.1:p.Glu625=
ENST00000513604.5:c.*1282_*1286delinsGAGGC	ENSP00000423111.1:n.*1282_*1286delinsGAGG...
ENST00000515425.5:c.1894_1898delinsGAGGC	ENSP00000423660.1:p.Glu632=
NM_024577.3:c.1894_1898delinsGAGGC , LRG_269t1:c.1894_1898delinsGAGGC	NP_078853.2:p.Glu632=
NM_024577.4:c.1894_1898delinsGAGGC MANE Select	NP_078853.2:p.Glu632=