Canonical Allele Identifier: CA640919586

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1415878847
• gnomAD v2: X-38535063-T-TGATACGGCGA
• gnomAD v3: X-38675809-T-TGATACGGCGA
• gnomAD v4: X-38675809-T-TGATACGGCGA
• MyVariant Identifiers: chrX:g.38535063_38535064insGATACGGCGA (hg19) ; chrX:g.38675809_38675810insGATACGGCGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675809_38675810insGATACGGCGA , CM000685.2:g.38675809_38675810insGATACGGCGA	GRCh38
NC_000023.10:g.38535063_38535064insGATACGGCGA , CM000685.1:g.38535063_38535064insGATACGGCGA	GRCh37
NC_000023.9:g.38420007_38420008insGATACGGCGA	NCBI36
NG_009160.1:g.119333_119334insGATACGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.546_547insGATACGGCGA MANE Select	ENSP00000367743.2:p.Pro183AspfsTer18
ENST00000286824.6:c.597_598insGATACGGCGA	ENSP00000286824.6:p.Pro200AspfsTer18
ENST00000378482.6:c.546_547insGATACGGCGA	ENSP00000367743.2:p.Pro183AspfsTer18
ENST00000419600.3:n.490_491insGATACGGCGA
ENST00000465127.1:c.636_637insGATACGGCGA	ENSP00000417050.1:p.Pro213AspfsTer18
ENST00000471410.5:c.*572_*573insGATACGGCGA	ENSP00000419290.1:n.*572_*573insGATACGGCGA
ENST00000475216.5:c.*539_*540insGATACGGCGA	ENSP00000418586.1:n.*539_*540insGATACGGCGA
ENST00000488893.5:n.729_730insGATACGGCGA
NM_004615.3:c.546_547insGATACGGCGA	NP_004606.2:p.Pro183AspfsTer18
NM_004615.4:c.546_547insGATACGGCGA MANE Select	NP_004606.2:p.Pro183AspfsTer18