Canonical Allele Identifier: CA1590304243

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008929_149008931delinsCTG , CM000667.2:g.149008929_149008931delinsCTG	GRCh38
NC_000005.9:g.148388492_148388494delinsCTG , CM000667.1:g.148388492_148388494delinsCTG	GRCh37
NC_000005.8:g.148368685_148368687delinsCTG	NCBI36
NG_007947.2:g.59244_59246delinsCAG , LRG_269:g.59244_59246delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3294_3296delinsCAG
ENST00000515425.6:c.3398_3400delinsCAG MANE Select	ENSP00000423660.1:p.Thr1133=
ENST00000675793.1:c.*2682_*2684delinsCAG	ENSP00000502039.1:n.*2682_*2684delinsCAG
ENST00000323829.9:c.*2786_*2788delinsCAG	ENSP00000313025.5:n.*2786_*2788delinsCAG
ENST00000504517.5:c.2928_2930delinsCAG	ENSP00000421779.1:n.2928_2930delinsCAG
ENST00000504690.5:c.3398_3400delinsCAG	ENSP00000425627.1:p.Thr1133=
ENST00000510779.1:c.2448_2450delinsCAG
ENST00000512049.5:c.3377_3379delinsCAG	ENSP00000421860.1:p.Thr1126=
ENST00000515229.5:n.60_62delinsCAG
ENST00000515425.5:c.3398_3400delinsCAG	ENSP00000423660.1:p.Thr1133=
NM_024577.3:c.3398_3400delinsCAG , LRG_269t1:c.3398_3400delinsCAG	NP_078853.2:p.Thr1133=
NM_024577.4:c.3398_3400delinsCAG MANE Select	NP_078853.2:p.Thr1133=