Canonical Allele Identifier: CA2740094136

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2980318
• ClinVar RCV Id: RCV003837492

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007042_149007056del , CM000667.2:g.149007042_149007056del	GRCh38
NC_000005.9:g.148386605_148386619del , CM000667.1:g.148386605_148386619del	GRCh37
NC_000005.8:g.148366798_148366812del	NCBI36
NG_007947.2:g.61123_61137del , LRG_269:g.61123_61137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4357_4371del
ENST00000515425.6:c.3504_3518del MANE Select	ENSP00000423660.1:p.Phe1169_Ala1173del
ENST00000675793.1:c.*4561_*4575del	ENSP00000502039.1:n.*4561_*4575del
ENST00000323829.9:c.*2892_*2906del	ENSP00000313025.5:n.*2892_*2906del
ENST00000502274.1:c.90_104del	ENSP00000421092.1:p.Phe31_Ala35del
ENST00000504517.5:c.3026_3040del	ENSP00000421779.1:n.3026_3040del
ENST00000504690.5:c.3504_3518del	ENSP00000425627.1:p.Phe1169_Ala1173del
ENST00000510350.1:n.60_74del
ENST00000510779.1:c.2554_2568del
ENST00000512049.5:c.3483_3497del	ENSP00000421860.1:p.Phe1162_Ala1166del
ENST00000515229.5:n.166_180del
ENST00000515425.5:c.3504_3518del	ENSP00000423660.1:p.Phe1169_Ala1173del
NM_024577.3:c.3504_3518del , LRG_269t1:c.3504_3518del	NP_078853.2:p.Phe1169_Ala1173del
NM_024577.4:c.3504_3518del MANE Select	NP_078853.2:p.Phe1169_Ala1173del