Canonical Allele Identifier: CA2675887533

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026605-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026608del , CM000667.2:g.149026608del	GRCh38
NC_000005.9:g.148406171del , CM000667.1:g.148406171del	GRCh37
NC_000005.8:g.148386364del	NCBI36
NG_007947.2:g.41569del , LRG_269:g.41569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2915del
ENST00000515425.6:c.3019del MANE Select	ENSP00000423660.1:p.Leu1007TrpfsTer8
ENST00000675793.1:c.*2303del	ENSP00000502039.1:n.*2303del
ENST00000676056.1:c.*2529del	ENSP00000501827.1:n.*2529del
ENST00000323829.9:c.*2407del	ENSP00000313025.5:n.*2407del
ENST00000504517.5:c.2549del	ENSP00000421779.1:n.2549del
ENST00000504690.5:c.3019del	ENSP00000425627.1:p.Leu1007TrpfsTer8
ENST00000510779.1:c.2069del
ENST00000511307.5:c.*2906del	ENSP00000421420.1:n.*2906del
ENST00000512049.5:c.2998del	ENSP00000421860.1:p.Leu1000TrpfsTer8
ENST00000513604.5:c.*2514del	ENSP00000423111.1:n.*2514del
ENST00000515425.5:c.3019del	ENSP00000423660.1:p.Leu1007TrpfsTer8
NM_024577.3:c.3019del , LRG_269t1:c.3019del	NP_078853.2:p.Leu1007TrpfsTer8
NM_024577.4:c.3019del MANE Select	NP_078853.2:p.Leu1007TrpfsTer8