Canonical Allele Identifier: CA1590303397

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007039_149007048delinsCCAGGCGGTG , CM000667.2:g.149007039_149007048delinsCCAGGCGGTG	GRCh38
NC_000005.9:g.148386602_148386611delinsCCAGGCGGTG , CM000667.1:g.148386602_148386611delinsCCAGGCGGTG	GRCh37
NC_000005.8:g.148366795_148366804delinsCCAGGCGGTG	NCBI36
NG_007947.2:g.61127_61136delinsCACCGCCTGG , LRG_269:g.61127_61136delinsCACCGCCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4361_4370delinsCACCGCCTGG
ENST00000515425.6:c.3508_3517delinsCACCGCCTGG MANE Select	ENSP00000423660.1:p.His1170=
ENST00000675793.1:c.*4565_*4574delinsCACCGCCTGG	ENSP00000502039.1:n.*4565_*4574delinsCACCGCCTGG
ENST00000323829.9:c.*2896_*2905delinsCACCGCCTGG	ENSP00000313025.5:n.*2896_*2905delinsCACCGCCTGG
ENST00000502274.1:c.94_103delinsCACCGCCTGG	ENSP00000421092.1:p.His32=
ENST00000504517.5:c.3030_3039delinsCACCGCCTGG	ENSP00000421779.1:n.3030_3039delinsCACCGCCTGG
ENST00000504690.5:c.3508_3517delinsCACCGCCTGG	ENSP00000425627.1:p.His1170=
ENST00000510350.1:n.64_73delinsCACCGCCTGG
ENST00000510779.1:c.2558_2567delinsCACCGCCTGG
ENST00000512049.5:c.3487_3496delinsCACCGCCTGG	ENSP00000421860.1:p.His1163=
ENST00000515229.5:n.170_179delinsCACCGCCTGG
ENST00000515425.5:c.3508_3517delinsCACCGCCTGG	ENSP00000423660.1:p.His1170=
NM_024577.3:c.3508_3517delinsCACCGCCTGG , LRG_269t1:c.3508_3517delinsCACCGCCTGG	NP_078853.2:p.His1170=
NM_024577.4:c.3508_3517delinsCACCGCCTGG MANE Select	NP_078853.2:p.His1170=