Canonical Allele Identifier: CA338731

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028329_149028330delinsAA , CM000667.2:g.149028329_149028330delinsAA	GRCh38
NC_000005.9:g.148407892_148407893delinsAA , CM000667.1:g.148407892_148407893delinsAA	GRCh37
NC_000005.8:g.148388085_148388086delinsAA	NCBI36
NG_007947.2:g.39845_39846delinsTT , LRG_269:g.39845_39846delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1395+27_1395+28delinsTT
ENST00000515425.6:c.1402_1403delinsTT MANE Select	ENSP00000423660.1:p.Ala468Phe
ENST00000675793.1:c.*686_*687delinsTT	ENSP00000502039.1:n.*686_*687delinsTT
ENST00000676056.1:c.*912_*913delinsTT	ENSP00000501827.1:n.*912_*913delinsTT
ENST00000323829.9:c.*790_*791delinsTT	ENSP00000313025.5:n.*790_*791delinsTT
ENST00000504517.5:c.932_933delinsTT	ENSP00000421779.1:n.932_933delinsTT
ENST00000504690.5:c.1402_1403delinsTT	ENSP00000425627.1:p.Ala468Phe
ENST00000510779.1:c.452_453delinsTT
ENST00000511307.5:c.*1182_*1183delinsTT	ENSP00000421420.1:n.*1182_*1183delinsTT
ENST00000512049.5:c.1381_1382delinsTT	ENSP00000421860.1:p.Ala461Phe
ENST00000513604.5:c.*790_*791delinsTT	ENSP00000423111.1:n.*790_*791delinsTT
ENST00000515425.5:c.1402_1403delinsTT	ENSP00000423660.1:p.Ala468Phe
NM_024577.3:c.1402_1403delinsTT , LRG_269t1:c.1402_1403delinsTT	NP_078853.2:p.Ala468Phe
NM_024577.4:c.1402_1403delinsTT MANE Select	NP_078853.2:p.Ala468Phe