Canonical Allele Identifier: CA1132427495

Gene: TSPAN7

Linked Data

• gnomAD v3: X-38675809-T-TGTTACGGCGA
• gnomAD v4: X-38675809-T-TGTTACGGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675809_38675810insGTTACGGCGA , CM000685.2:g.38675809_38675810insGTTACGGCGA	GRCh38
NC_000023.10:g.38535063_38535064insGTTACGGCGA , CM000685.1:g.38535063_38535064insGTTACGGCGA	GRCh37
NC_000023.9:g.38420007_38420008insGTTACGGCGA	NCBI36
NG_009160.1:g.119333_119334insGTTACGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.546_547insGTTACGGCGA MANE Select	ENSP00000367743.2:p.Pro183ValfsTer18
ENST00000286824.6:c.597_598insGTTACGGCGA	ENSP00000286824.6:p.Pro200ValfsTer18
ENST00000378482.6:c.546_547insGTTACGGCGA	ENSP00000367743.2:p.Pro183ValfsTer18
ENST00000419600.3:n.490_491insGTTACGGCGA
ENST00000465127.1:c.636_637insGTTACGGCGA	ENSP00000417050.1:p.Pro213ValfsTer18
ENST00000471410.5:c.*572_*573insGTTACGGCGA	ENSP00000419290.1:n.*572_*573insGTTACGGCGA
ENST00000475216.5:c.*539_*540insGTTACGGCGA	ENSP00000418586.1:n.*539_*540insGTTACGGCGA
ENST00000488893.5:n.729_730insGTTACGGCGA
NM_004615.3:c.546_547insGTTACGGCGA	NP_004606.2:p.Pro183ValfsTer18
NM_004615.4:c.546_547insGTTACGGCGA MANE Select	NP_004606.2:p.Pro183ValfsTer18