Canonical Allele Identifier: CA2675887966

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027551-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027555del , CM000667.2:g.149027555del	GRCh38
NC_000005.9:g.148407118del , CM000667.1:g.148407118del	GRCh37
NC_000005.8:g.148387311del	NCBI36
NG_007947.2:g.40623del , LRG_269:g.40623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2076del
ENST00000515425.6:c.2180del MANE Select	ENSP00000423660.1:p.Pro727GlnfsTer24
ENST00000675793.1:c.*1464del	ENSP00000502039.1:n.*1464del
ENST00000676056.1:c.*1690del	ENSP00000501827.1:n.*1690del
ENST00000323829.9:c.*1568del	ENSP00000313025.5:n.*1568del
ENST00000504517.5:c.1710del	ENSP00000421779.1:n.1710del
ENST00000504690.5:c.2180del	ENSP00000425627.1:p.Pro727GlnfsTer24
ENST00000510779.1:c.1230del
ENST00000511307.5:c.*1960del	ENSP00000421420.1:n.*1960del
ENST00000512049.5:c.2159del	ENSP00000421860.1:p.Pro720GlnfsTer24
ENST00000513604.5:c.*1568del	ENSP00000423111.1:n.*1568del
ENST00000515425.5:c.2180del	ENSP00000423660.1:p.Pro727GlnfsTer24
NM_024577.3:c.2180del , LRG_269t1:c.2180del	NP_078853.2:p.Pro727GlnfsTer24
NM_024577.4:c.2180del MANE Select	NP_078853.2:p.Pro727GlnfsTer24