Canonical Allele Identifier: CA1590312656

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027899_149027900delinsAT , CM000667.2:g.149027899_149027900delinsAT	GRCh38
NC_000005.9:g.148407462_148407463delinsAT , CM000667.1:g.148407462_148407463delinsAT	GRCh37
NC_000005.8:g.148387655_148387656delinsAT	NCBI36
NG_007947.2:g.40275_40276delinsAT , LRG_269:g.40275_40276delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1728_1729delinsAT
ENST00000515425.6:c.1832_1833delinsAT MANE Select	ENSP00000423660.1:p.His611=
ENST00000675793.1:c.*1116_*1117delinsAT	ENSP00000502039.1:n.*1116_*1117delinsAT
ENST00000676056.1:c.*1342_*1343delinsAT	ENSP00000501827.1:n.*1342_*1343delinsAT
ENST00000323829.9:c.*1220_*1221delinsAT	ENSP00000313025.5:n.*1220_*1221delinsAT
ENST00000504517.5:c.1362_1363delinsAT	ENSP00000421779.1:n.1362_1363delinsAT
ENST00000504690.5:c.1832_1833delinsAT	ENSP00000425627.1:p.His611=
ENST00000510779.1:c.882_883delinsAT
ENST00000511307.5:c.*1612_*1613delinsAT	ENSP00000421420.1:n.*1612_*1613delinsAT
ENST00000512049.5:c.1811_1812delinsAT	ENSP00000421860.1:p.His604=
ENST00000513604.5:c.*1220_*1221delinsAT	ENSP00000423111.1:n.*1220_*1221delinsAT
ENST00000515425.5:c.1832_1833delinsAT	ENSP00000423660.1:p.His611=
NM_024577.3:c.1832_1833delinsAT , LRG_269t1:c.1832_1833delinsAT	NP_078853.2:p.His611=
NM_024577.4:c.1832_1833delinsAT MANE Select	NP_078853.2:p.His611=