Canonical Allele Identifier: CA10620655
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351716
ClinVar RCV Id: RCV000309325 RCV000342655
dbSNP Id: rs57301725
gnomAD v2: 5-148374163-ATGGT-A
gnomAD v3: 5-148994600-ATGGT-A
gnomAD v4: 5-148994600-ATGGT-A
COSMIC: COSN20102031
MyVariant Identifiers: chr5:g.148374180_148374183del (hg19) chr5:g.148374164_148374167del (hg19) chr5:g.148994617_148994620del (hg38) chr5:g.148994601_148994604del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994658_148994661del , CM000667.2:g.148994658_148994661del GRCh38
NC_000005.9:g.148374221_148374224del , CM000667.1:g.148374221_148374224del GRCh37
NC_000005.8:g.148354414_148354417del NCBI36
NG_007947.2:g.73571_73574del , LRG_269:g.73571_73574del

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10107_*10110del MANE Select ENSP00000423660.1:n.*10107_*10110del
ENST00000504690.5:c.*12+9122_*12+9125del ENSP00000425627.1:n.*12+9122_*12+9125del
ENST00000510350.1:n.231+12277_231+12280del
NM_024577.3:c.*10107_*10110del , LRG_269t1:c.*10107_*10110del NP_078853.2:n.*10107_*10110del
NM_024577.4:c.*10107_*10110del MANE Select NP_078853.2:n.*10107_*10110del
Search 100 bp 5'
Search 100 bp 3'