Canonical Allele Identifier: CA447108035
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148406261del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026700del , CM000667.2:g.149026700del GRCh38
NC_000005.9:g.148406263del , CM000667.1:g.148406263del GRCh37
NC_000005.8:g.148386456del NCBI36
NG_007947.2:g.41477del , LRG_269:g.41477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2823del
ENST00000515425.6:c.2927del MANE Select ENSP00000423660.1:p.Asn976ThrfsTer?
ENST00000675793.1:c.*2211del ENSP00000502039.1:n.*2211del
ENST00000676056.1:c.*2437del ENSP00000501827.1:n.*2437del
ENST00000323829.9:c.*2315del ENSP00000313025.5:n.*2315del
ENST00000504517.5:c.2457del ENSP00000421779.1:n.2457del
ENST00000504690.5:c.2927del ENSP00000425627.1:p.Asn976ThrfsTer?
ENST00000510779.1:c.1977del
ENST00000511307.5:c.*2814del ENSP00000421420.1:n.*2814del
ENST00000512049.5:c.2906del ENSP00000421860.1:p.Asn969ThrfsTer?
ENST00000513604.5:c.*2422del ENSP00000423111.1:n.*2422del
ENST00000515425.5:c.2927del ENSP00000423660.1:p.Asn976ThrfsTer?
NM_024577.3:c.2927del , LRG_269t1:c.2927del NP_078853.2:p.Asn976ThrfsTer?
NM_024577.4:c.2927del MANE Select NP_078853.2:p.Asn976ThrfsTer?