Canonical Allele Identifier: CA1590304234

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008902_149008903delinsCA , CM000667.2:g.149008902_149008903delinsCA	GRCh38
NC_000005.9:g.148388465_148388466delinsCA , CM000667.1:g.148388465_148388466delinsCA	GRCh37
NC_000005.8:g.148368658_148368659delinsCA	NCBI36
NG_007947.2:g.59272_59273delinsTG , LRG_269:g.59272_59273delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3322_3323delinsTG
ENST00000515425.6:c.3426_3427delinsTG MANE Select	ENSP00000423660.1:p.Tyr1142=
ENST00000675793.1:c.*2710_*2711delinsTG	ENSP00000502039.1:n.*2710_*2711delinsTG
ENST00000323829.9:c.*2814_*2815delinsTG	ENSP00000313025.5:n.*2814_*2815delinsTG
ENST00000504517.5:c.2956_2957delinsTG	ENSP00000421779.1:n.2956_2957delinsTG
ENST00000504690.5:c.3426_3427delinsTG	ENSP00000425627.1:p.Tyr1142=
ENST00000510779.1:c.2476_2477delinsTG
ENST00000512049.5:c.3405_3406delinsTG	ENSP00000421860.1:p.Tyr1135=
ENST00000515229.5:n.88_89delinsTG
ENST00000515425.5:c.3426_3427delinsTG	ENSP00000423660.1:p.Tyr1142=
NM_024577.3:c.3426_3427delinsTG , LRG_269t1:c.3426_3427delinsTG	NP_078853.2:p.Tyr1142=
NM_024577.4:c.3426_3427delinsTG MANE Select	NP_078853.2:p.Tyr1142=