Allele Registry

Canonical Allele Identifier: CA338185

Gene: SH3TC2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.149028070del

GRCh37 chr5:g.148407633del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000198786

ClinVar Variation:

216119

dbSNP:

863224520

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028071del , CM000667.2:g.149028071del	GRCh38
NC_000005.9:g.148407634del , CM000667.1:g.148407634del	GRCh37
NC_000005.8:g.148387827del	NCBI36
NG_007947.2:g.40105del , LRG_269:g.40105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1558del
ENST00000515425.6:c.1662del MANE Select	ENSP00000423660.1:p.Ile555SerfsTer26
ENST00000675793.1:c.*946del	ENSP00000502039.1:n.*946del
ENST00000676056.1:c.*1172del	ENSP00000501827.1:n.*1172del
ENST00000323829.9:c.*1050del	ENSP00000313025.5:n.*1050del
ENST00000504517.5:c.1192del	ENSP00000421779.1:n.1192del
ENST00000504690.5:c.1662del	ENSP00000425627.1:p.Ile555SerfsTer26
ENST00000510779.1:c.712del
ENST00000511307.5:c.*1442del	ENSP00000421420.1:n.*1442del
ENST00000512049.5:c.1641del	ENSP00000421860.1:p.Ile548SerfsTer26
ENST00000513604.5:c.*1050del	ENSP00000423111.1:n.*1050del
ENST00000515425.5:c.1662del	ENSP00000423660.1:p.Ile555SerfsTer26
NM_024577.3:c.1662del , LRG_269t1:c.1662del	NP_078853.2:p.Ile555SerfsTer26
NM_024577.4:c.1662del MANE Select	NP_078853.2:p.Ile555SerfsTer26

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