Canonical Allele Identifier: CA1590304230

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008893_149008904delinsAAGCCTTCTCAT , CM000667.2:g.149008893_149008904delinsAAGCCTTCTCAT	GRCh38
NC_000005.9:g.148388456_148388467delinsAAGCCTTCTCAT , CM000667.1:g.148388456_148388467delinsAAGCCTTCTCAT	GRCh37
NC_000005.8:g.148368649_148368660delinsAAGCCTTCTCAT	NCBI36
NG_007947.2:g.59271_59282delinsATGAGAAGGCTT , LRG_269:g.59271_59282delinsATGAGAAGGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3321_3332delinsATGAGAAGGCTT
ENST00000515425.6:c.3425_3436delinsATGAGAAGGCTT MANE Select	ENSP00000423660.1:p.Tyr1142=
ENST00000675793.1:c.*2709_*2720delinsATGAGAAGGCTT	ENSP00000502039.1:n.*2709_*2720delinsATGAGAAGGCTT
ENST00000323829.9:c.*2813_*2824delinsATGAGAAGGCTT	ENSP00000313025.5:n.*2813_*2824delinsATGAGAAGGCTT
ENST00000504517.5:c.2955_2966delinsATGAGAAGGCTT	ENSP00000421779.1:n.2955_2966delinsATGAGAAGGCTT
ENST00000504690.5:c.3425_3436delinsATGAGAAGGCTT	ENSP00000425627.1:p.Tyr1142=
ENST00000510779.1:c.2475_2486delinsATGAGAAGGCTT
ENST00000512049.5:c.3404_3415delinsATGAGAAGGCTT	ENSP00000421860.1:p.Tyr1135=
ENST00000515229.5:n.87_98delinsATGAGAAGGCTT
ENST00000515425.5:c.3425_3436delinsATGAGAAGGCTT	ENSP00000423660.1:p.Tyr1142=
NM_024577.3:c.3425_3436delinsATGAGAAGGCTT , LRG_269t1:c.3425_3436delinsATGAGAAGGCTT	NP_078853.2:p.Tyr1142=
NM_024577.4:c.3425_3436delinsATGAGAAGGCTT MANE Select	NP_078853.2:p.Tyr1142=