Canonical Allele Identifier: CA1590304107

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008627_149008629delinsCAA , CM000667.2:g.149008627_149008629delinsCAA	GRCh38
NC_000005.9:g.148388190_148388192delinsCAA , CM000667.1:g.148388190_148388192delinsCAA	GRCh37
NC_000005.8:g.148368383_148368385delinsCAA	NCBI36
NG_007947.2:g.59546_59548delinsTTG , LRG_269:g.59546_59548delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+222_3374+224delinsTTG
ENST00000515425.6:c.3478+222_3478+224delinsTTG MANE Select	ENSP00000423660.1:n.3478+222_3478+224delinsTTG
ENST00000675793.1:c.*2984_*2986delinsTTG	ENSP00000502039.1:n.*2984_*2986delinsTTG
ENST00000323829.9:c.*2866+222_*2866+224delinsTTG	ENSP00000313025.5:n.*2866+222_*2866+224delinsTTG
ENST00000504517.5:c.3008+222_3008+224delinsTTG	ENSP00000421779.1:n.3008+222_3008+224delinsTTG
ENST00000504690.5:c.3478+222_3478+224delinsTTG	ENSP00000425627.1:n.3478+222_3478+224delinsTTG
ENST00000510779.1:c.2528+222_2528+224delinsTTG
ENST00000512049.5:c.3457+222_3457+224delinsTTG	ENSP00000421860.1:n.3457+222_3457+224delinsTTG
ENST00000515229.5:n.140+222_140+224delinsTTG
ENST00000515425.5:c.3478+222_3478+224delinsTTG	ENSP00000423660.1:n.3478+222_3478+224delinsTTG
NM_024577.3:c.3478+222_3478+224delinsTTG , LRG_269t1:c.3478+222_3478+224delinsTTG	NP_078853.2:n.3478+222_3478+224delinsTTG
NM_024577.4:c.3478+222_3478+224delinsTTG MANE Select	NP_078853.2:n.3478+222_3478+224delinsTTG