Canonical Allele Identifier: CA1590312620

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027816_149027817delinsGC , CM000667.2:g.149027816_149027817delinsGC	GRCh38
NC_000005.9:g.148407379_148407380delinsGC , CM000667.1:g.148407379_148407380delinsGC	GRCh37
NC_000005.8:g.148387572_148387573delinsGC	NCBI36
NG_007947.2:g.40358_40359delinsGC , LRG_269:g.40358_40359delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1811_1812delinsGC
ENST00000515425.6:c.1915_1916delinsGC MANE Select	ENSP00000423660.1:p.Ala639=
ENST00000675793.1:c.*1199_*1200delinsGC	ENSP00000502039.1:n.*1199_*1200delinsGC
ENST00000676056.1:c.*1425_*1426delinsGC	ENSP00000501827.1:n.*1425_*1426delinsGC
ENST00000323829.9:c.*1303_*1304delinsGC	ENSP00000313025.5:n.*1303_*1304delinsGC
ENST00000504517.5:c.1445_1446delinsGC	ENSP00000421779.1:n.1445_1446delinsGC
ENST00000504690.5:c.1915_1916delinsGC	ENSP00000425627.1:p.Ala639=
ENST00000510779.1:c.965_966delinsGC
ENST00000511307.5:c.*1695_*1696delinsGC	ENSP00000421420.1:n.*1695_*1696delinsGC
ENST00000512049.5:c.1894_1895delinsGC	ENSP00000421860.1:p.Ala632=
ENST00000513604.5:c.*1303_*1304delinsGC	ENSP00000423111.1:n.*1303_*1304delinsGC
ENST00000515425.5:c.1915_1916delinsGC	ENSP00000423660.1:p.Ala639=
NM_024577.3:c.1915_1916delinsGC , LRG_269t1:c.1915_1916delinsGC	NP_078853.2:p.Ala639=
NM_024577.4:c.1915_1916delinsGC MANE Select	NP_078853.2:p.Ala639=