Canonical Allele Identifier: CA1590312084

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026635_149026636delinsCG , CM000667.2:g.149026635_149026636delinsCG	GRCh38
NC_000005.9:g.148406198_148406199delinsCG , CM000667.1:g.148406198_148406199delinsCG	GRCh37
NC_000005.8:g.148386391_148386392delinsCG	NCBI36
NG_007947.2:g.41539_41540delinsCG , LRG_269:g.41539_41540delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2885_2886delinsCG
ENST00000515425.6:c.2989_2990delinsCG MANE Select	ENSP00000423660.1:p.Arg997=
ENST00000675793.1:c.*2273_*2274delinsCG	ENSP00000502039.1:n.*2273_*2274delinsCG
ENST00000676056.1:c.*2499_*2500delinsCG	ENSP00000501827.1:n.*2499_*2500delinsCG
ENST00000323829.9:c.*2377_*2378delinsCG	ENSP00000313025.5:n.*2377_*2378delinsCG
ENST00000504517.5:c.2519_2520delinsCG	ENSP00000421779.1:n.2519_2520delinsCG
ENST00000504690.5:c.2989_2990delinsCG	ENSP00000425627.1:p.Arg997=
ENST00000510779.1:c.2039_2040delinsCG
ENST00000511307.5:c.*2876_*2877delinsCG	ENSP00000421420.1:n.*2876_*2877delinsCG
ENST00000512049.5:c.2968_2969delinsCG	ENSP00000421860.1:p.Arg990=
ENST00000513604.5:c.*2484_*2485delinsCG	ENSP00000423111.1:n.*2484_*2485delinsCG
ENST00000515425.5:c.2989_2990delinsCG	ENSP00000423660.1:p.Arg997=
NM_024577.3:c.2989_2990delinsCG , LRG_269t1:c.2989_2990delinsCG	NP_078853.2:p.Arg997=
NM_024577.4:c.2989_2990delinsCG MANE Select	NP_078853.2:p.Arg997=