Canonical Allele Identifier: CA2579585171
Gene: TSPAN7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675831_38675834del , CM000685.2:g.38675831_38675834del GRCh38
NC_000023.10:g.38535085_38535088del , CM000685.1:g.38535085_38535088del GRCh37
NC_000023.9:g.38420029_38420032del NCBI36
NG_009160.1:g.119355_119358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.568_571del MANE Select ENSP00000367743.2:p.Thr190TrpfsTer15
ENST00000286824.6:c.619_622del ENSP00000286824.6:p.Thr207TrpfsTer15
ENST00000378482.6:c.568_571del ENSP00000367743.2:p.Thr190TrpfsTer15
ENST00000419600.3:n.512_515del
ENST00000465127.1:c.658_661del ENSP00000417050.1:p.Thr220TrpfsTer15
ENST00000471410.5:c.*594_*597del ENSP00000419290.1:n.*594_*597del
ENST00000475216.5:c.*561_*564del ENSP00000418586.1:n.*561_*564del
NM_004615.3:c.568_571del NP_004606.2:p.Thr190TrpfsTer15
NM_004615.4:c.568_571del MANE Select NP_004606.2:p.Thr190TrpfsTer15