Canonical Allele Identifier: CA2645439862

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190471-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190473del , CM000663.2:g.46190473del	GRCh38
NC_000001.10:g.46656145del , CM000663.1:g.46656145del	GRCh37
NC_000001.9:g.46428732del	NCBI36
NG_009205.2:g.34834del
NG_009205.3:g.34834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1649+1del (POMGNT1)
ENST00000477114.2:n.2212del (POMGNT1)
ENST00000497439.6:n.1821+1del (POMGNT1)
ENST00000684817.1:n.2009+1del (POMGNT1)
ENST00000684898.1:n.2211+1del (POMGNT1)
ENST00000685230.1:c.*959+1del (POMGNT1)
ENST00000685275.1:n.2196+1del (POMGNT1)
ENST00000685444.1:c.1550+1del (POMGNT1)
ENST00000685704.1:n.2315+1del (POMGNT1)
ENST00000685775.1:n.4692del (POMGNT1)
ENST00000685833.1:n.4042+1del (POMGNT1)
ENST00000686252.1:n.2723+1del (POMGNT1)
ENST00000686379.1:c.*773+1del (POMGNT1)
ENST00000686724.1:n.3336+1del (POMGNT1)
ENST00000686737.1:c.1649+1del (POMGNT1)
ENST00000687112.1:n.2515+1del (POMGNT1)
ENST00000687149.1:c.1688+1del (POMGNT1)
ENST00000687197.1:c.*589+1del (POMGNT1)
ENST00000687235.1:n.3726+1del (POMGNT1)
ENST00000687613.1:n.2290-483del (POMGNT1)
ENST00000687683.1:c.1649+1del (POMGNT1)
ENST00000688032.1:n.2186+1del (POMGNT1)
ENST00000688596.1:n.2300+1del (POMGNT1)
ENST00000688608.1:c.1550+1del (POMGNT1)
ENST00000688919.1:n.3048del (POMGNT1)
ENST00000689031.1:n.2102-483del (POMGNT1)
ENST00000689717.1:n.2024del (POMGNT1)
ENST00000689756.1:c.*1281+1del (POMGNT1)
ENST00000690377.1:n.1996+1del (POMGNT1)
ENST00000690678.1:c.1649+1del (POMGNT1)
ENST00000691209.1:c.*589+1del (POMGNT1)
ENST00000691243.1:c.*40+1del (POMGNT1)
ENST00000692169.1:n.3314del (POMGNT1)
ENST00000692202.1:n.2224+1del (POMGNT1)
ENST00000692322.1:c.*1436+1del (POMGNT1)
ENST00000692369.1:c.1649+1del (POMGNT1)
ENST00000692599.1:n.3524+1del (POMGNT1)
ENST00000692635.1:c.*524+1del (POMGNT1)
ENST00000693168.1:n.3425+1del (POMGNT1)
ENST00000693218.1:c.*210+1del (POMGNT1)
ENST00000693223.1:n.2597+1del (POMGNT1)
ENST00000693365.1:n.5799del (POMGNT1)
ENST00000371984.8:c.1649+1del (POMGNT1)
ENST00000371984.7:c.1649+1del (POMGNT1)
ENST00000371992.1:c.1649+1del (POMGNT1)
ENST00000396420.7:c.*1318+1del (POMGNT1)
ENST00000480972.1:n.298+1del (POMGNT1)
ENST00000485714.1:n.2551del (POMGNT1)
NM_001243766.1:c.1649+1del (POMGNT1)
NM_001290129.1:c.1583+1del (POMGNT1)
NM_001290130.1:c.1220+1del (POMGNT1)
NM_017739.3:c.1649+1del (POMGNT1)
XM_005271010.1:c.1649+1del (POMGNT1)
XM_006710755.1:c.1649+1del (POMGNT1)
XM_006710756.1:c.1649+1del (POMGNT1)
XM_011540460.1:c.678+5165del (TSPAN1)	XP_011538762.1:n.678+5165del
XM_011540461.1:c.633+5165del (TSPAN1)	XP_011538763.1:n.633+5165del
XM_011541759.1:c.1583+1del (POMGNT1)
XM_011541760.1:c.1583+1del (POMGNT1)
XM_011541761.1:c.557+1del (POMGNT1)
XM_011540460.3:c.678+5165del (TSPAN1)	XP_011538762.1:n.678+5165del
XM_011541760.3:c.1583+1del (POMGNT1)
XM_017001690.1:c.1649+1del (POMGNT1)
NM_001243766.2:c.1649+1del (POMGNT1)
NM_001290129.2:c.1583+1del (POMGNT1)
NM_001290130.2:c.1220+1del (POMGNT1)
NM_017739.4:c.1649+1del (POMGNT1)