Canonical Allele Identifier: CA2675887534

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008891-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008894del , CM000667.2:g.149008894del	GRCh38
NC_000005.9:g.148388457del , CM000667.1:g.148388457del	GRCh37
NC_000005.8:g.148368650del	NCBI36
NG_007947.2:g.59283del , LRG_269:g.59283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3333del
ENST00000515425.6:c.3437del MANE Select	ENSP00000423660.1:p.Leu1146TrpfsTer?
ENST00000675793.1:c.*2721del	ENSP00000502039.1:n.*2721del
ENST00000323829.9:c.*2825del	ENSP00000313025.5:n.*2825del
ENST00000504517.5:c.2967del	ENSP00000421779.1:n.2967del
ENST00000504690.5:c.3437del	ENSP00000425627.1:p.Leu1146TrpfsTer?
ENST00000510779.1:c.2487del
ENST00000512049.5:c.3416del	ENSP00000421860.1:p.Leu1139TrpfsTer?
ENST00000515229.5:n.99del
ENST00000515425.5:c.3437del	ENSP00000423660.1:p.Leu1146TrpfsTer?
NM_024577.3:c.3437del , LRG_269t1:c.3437del	NP_078853.2:p.Leu1146TrpfsTer?
NM_024577.4:c.3437del MANE Select	NP_078853.2:p.Leu1146TrpfsTer?