Canonical Allele Identifier: CA640919589

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1407096926
• gnomAD v2: X-38535065-C-CA
• gnomAD v3: X-38675811-C-CA
• gnomAD v4: X-38675811-C-CA
• MyVariant Identifiers: chrX:g.38535065_38535066insA (hg19) ; chrX:g.38675811_38675812insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675811_38675812insA , CM000685.2:g.38675811_38675812insA	GRCh38
NC_000023.10:g.38535065_38535066insA , CM000685.1:g.38535065_38535066insA	GRCh37
NC_000023.9:g.38420009_38420010insA	NCBI36
NG_009160.1:g.119335_119336insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.548_549insA MANE Select	ENSP00000367743.2:p.Gln184ProfsTer14
ENST00000286824.6:c.599_600insA	ENSP00000286824.6:p.Gln201ProfsTer14
ENST00000378482.6:c.548_549insA	ENSP00000367743.2:p.Gln184ProfsTer14
ENST00000419600.3:n.492_493insA
ENST00000465127.1:c.638_639insA	ENSP00000417050.1:p.Gln214ProfsTer14
ENST00000471410.5:c.*574_*575insA	ENSP00000419290.1:n.*574_*575insA
ENST00000475216.5:c.*541_*542insA	ENSP00000418586.1:n.*541_*542insA
ENST00000488893.5:n.731_732insA
NM_004615.3:c.548_549insA	NP_004606.2:p.Gln184ProfsTer14
NM_004615.4:c.548_549insA MANE Select	NP_004606.2:p.Gln184ProfsTer14