Canonical Allele Identifier: CA2695205557
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149007050_149007064del , CM000667.2:g.149007050_149007064del GRCh38
NC_000005.9:g.148386613_148386627del , CM000667.1:g.148386613_148386627del GRCh37
NC_000005.8:g.148366806_148366820del NCBI36
NG_007947.2:g.61111_61125del , LRG_269:g.61111_61125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.4345_4359del
ENST00000515425.6:c.3492_3506del MANE Select ENSP00000423660.1:p.Gln1164_Phe1169delinsHis
ENST00000675793.1:c.*4549_*4563del ENSP00000502039.1:n.*4549_*4563del
ENST00000323829.9:c.*2880_*2894del ENSP00000313025.5:n.*2880_*2894del
ENST00000502274.1:c.78_92del ENSP00000421092.1:p.Gln26_Phe31delinsHis
ENST00000504517.5:c.3014_3028del ENSP00000421779.1:n.3014_3028del
ENST00000504690.5:c.3492_3506del ENSP00000425627.1:p.Gln1164_Phe1169delinsHis
ENST00000510350.1:n.48_62del
ENST00000510779.1:c.2542_2556del
ENST00000512049.5:c.3471_3485del ENSP00000421860.1:p.Gln1157_Phe1162delinsHis
ENST00000515229.5:n.154_168del
ENST00000515425.5:c.3492_3506del ENSP00000423660.1:p.Gln1164_Phe1169delinsHis
NM_024577.3:c.3492_3506del , LRG_269t1:c.3492_3506del NP_078853.2:p.Gln1164_Phe1169delinsHis
NM_024577.4:c.3492_3506del MANE Select NP_078853.2:p.Gln1164_Phe1169delinsHis