Canonical Allele Identifier: CA1590312640

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027862_149027864delinsTCC , CM000667.2:g.149027862_149027864delinsTCC	GRCh38
NC_000005.9:g.148407425_148407427delinsTCC , CM000667.1:g.148407425_148407427delinsTCC	GRCh37
NC_000005.8:g.148387618_148387620delinsTCC	NCBI36
NG_007947.2:g.40311_40313delinsGGA , LRG_269:g.40311_40313delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1764_1766delinsGGA
ENST00000515425.6:c.1868_1870delinsGGA MANE Select	ENSP00000423660.1:p.Gly623=
ENST00000675793.1:c.*1152_*1154delinsGGA	ENSP00000502039.1:n.*1152_*1154delinsGGA
ENST00000676056.1:c.*1378_*1380delinsGGA	ENSP00000501827.1:n.*1378_*1380delinsGGA
ENST00000323829.9:c.*1256_*1258delinsGGA	ENSP00000313025.5:n.*1256_*1258delinsGGA
ENST00000504517.5:c.1398_1400delinsGGA	ENSP00000421779.1:n.1398_1400delinsGGA
ENST00000504690.5:c.1868_1870delinsGGA	ENSP00000425627.1:p.Gly623=
ENST00000510779.1:c.918_920delinsGGA
ENST00000511307.5:c.*1648_*1650delinsGGA	ENSP00000421420.1:n.*1648_*1650delinsGGA
ENST00000512049.5:c.1847_1849delinsGGA	ENSP00000421860.1:p.Gly616=
ENST00000513604.5:c.*1256_*1258delinsGGA	ENSP00000423111.1:n.*1256_*1258delinsGGA
ENST00000515425.5:c.1868_1870delinsGGA	ENSP00000423660.1:p.Gly623=
NM_024577.3:c.1868_1870delinsGGA , LRG_269t1:c.1868_1870delinsGGA	NP_078853.2:p.Gly623=
NM_024577.4:c.1868_1870delinsGGA MANE Select	NP_078853.2:p.Gly623=