Canonical Allele Identifier: CA1590312532

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027641_149027660delinsACCATGTTGCTGGACAGAGG , CM000667.2:g.149027641_149027660delinsACCATGTTGCTGGACAGAGG	GRCh38
NC_000005.9:g.148407204_148407223delinsACCATGTTGCTGGACAGAGG , CM000667.1:g.148407204_148407223delinsACCATGTTGCTGGACAGAGG	GRCh37
NC_000005.8:g.148387397_148387416delinsACCATGTTGCTGGACAGAGG	NCBI36
NG_007947.2:g.40515_40534delinsCCTCTGTCCAGCAACATGGT , LRG_269:g.40515_40534delinsCCTCTGTCCAGCAACATGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1968_1987delinsCCTCTGTCCAGCAACATGGT
ENST00000515425.6:c.2072_2091delinsCCTCTGTCCAGCAACATGGT MANE Select	ENSP00000423660.1:p.Ala691=
ENST00000675793.1:c.*1356_*1375delinsCCTCTGTCCAGCAACATGGT	ENSP00000502039.1:n.*1356_*1375delinsCCTCTGTCCAGCAACATGGT
ENST00000676056.1:c.*1582_*1601delinsCCTCTGTCCAGCAACATGGT	ENSP00000501827.1:n.*1582_*1601delinsCCTCTGTCCAGCAACATGGT
ENST00000323829.9:c.*1460_*1479delinsCCTCTGTCCAGCAACATGGT	ENSP00000313025.5:n.*1460_*1479delinsCCTCTGTCCAGCAACATGGT
ENST00000504517.5:c.1602_1621delinsCCTCTGTCCAGCAACATGGT	ENSP00000421779.1:n.1602_1621delinsCCTCTGTCCAGCAACATGGT
ENST00000504690.5:c.2072_2091delinsCCTCTGTCCAGCAACATGGT	ENSP00000425627.1:p.Ala691=
ENST00000510779.1:c.1122_1141delinsCCTCTGTCCAGCAACATGGT
ENST00000511307.5:c.*1852_*1871delinsCCTCTGTCCAGCAACATGGT	ENSP00000421420.1:n.*1852_*1871delinsCCTCTGTCCAGCAACATGGT
ENST00000512049.5:c.2051_2070delinsCCTCTGTCCAGCAACATGGT	ENSP00000421860.1:p.Ala684=
ENST00000513604.5:c.*1460_*1479delinsCCTCTGTCCAGCAACATGGT	ENSP00000423111.1:n.*1460_*1479delinsCCTCTGTCCAGCAACATGGT
ENST00000515425.5:c.2072_2091delinsCCTCTGTCCAGCAACATGGT	ENSP00000423660.1:p.Ala691=
NM_024577.3:c.2072_2091delinsCCTCTGTCCAGCAACATGGT , LRG_269t1:c.2072_2091delinsCCTCTGTCCAGCAACATGGT	NP_078853.2:p.Ala691=
NM_024577.4:c.2072_2091delinsCCTCTGTCCAGCAACATGGT MANE Select	NP_078853.2:p.Ala691=