Canonical Allele Identifier: CA2510098028
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026812del , CM000667.2:g.149026812del GRCh38
NC_000005.9:g.148406375del , CM000667.1:g.148406375del GRCh37
NC_000005.8:g.148386568del NCBI36
NG_007947.2:g.41363del , LRG_269:g.41363del

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.2768+48del
ENST00000515425.6:c.2872+48del MANE Select ENSP00000423660.1:n.2872+48del
ENST00000675793.1:c.*2156+48del ENSP00000502039.1:n.*2156+48del
ENST00000676056.1:c.*2382+48del ENSP00000501827.1:n.*2382+48del
ENST00000323829.9:c.*2260+48del ENSP00000313025.5:n.*2260+48del
ENST00000504517.5:c.2402+48del ENSP00000421779.1:n.2402+48del
ENST00000504690.5:c.2872+48del ENSP00000425627.1:n.2872+48del
ENST00000510779.1:c.1922+48del
ENST00000511307.5:c.*2700del ENSP00000421420.1:n.*2700del
ENST00000512049.5:c.2851+48del ENSP00000421860.1:n.2851+48del
ENST00000513604.5:c.*2308del ENSP00000423111.1:n.*2308del
ENST00000515425.5:c.2872+48del ENSP00000423660.1:n.2872+48del
NM_024577.3:c.2872+48del , LRG_269t1:c.2872+48del NP_078853.2:n.2872+48del
NM_024577.4:c.2872+48del MANE Select NP_078853.2:n.2872+48del