Canonical Allele Identifier: CA522811778

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1304754127
• gnomAD v2: 1-46657814-AG-A
• gnomAD v4: 1-46192142-AG-A
• MyVariant Identifiers: chr1:g.46657815del (hg19) ; chr1:g.46192143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192144del , CM000663.2:g.46192144del	GRCh38
NC_000001.10:g.46657816del , CM000663.1:g.46657816del	GRCh37
NC_000001.9:g.46430403del	NCBI36
NG_009205.2:g.33163del
NG_009205.3:g.33163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1494del (POMGNT1)	ENSP00000379698.4:p.Tyr499ThrfsTer10
ENST00000477114.2:n.2056del (POMGNT1)
ENST00000497439.6:n.1666del (POMGNT1)
ENST00000684817.1:n.1854del (POMGNT1)
ENST00000684898.1:n.2056del (POMGNT1)
ENST00000685230.1:c.*804del (POMGNT1)	ENSP00000510305.1:n.*804del
ENST00000685275.1:n.2041del (POMGNT1)
ENST00000685444.1:c.1395del (POMGNT1)	ENSP00000510762.1:p.Tyr466ThrfsTer10
ENST00000685704.1:n.2056del (POMGNT1)
ENST00000685775.1:n.3021del (POMGNT1)
ENST00000685833.1:n.2372del (POMGNT1)
ENST00000686252.1:n.2568del (POMGNT1)
ENST00000686379.1:c.*618del (POMGNT1)	ENSP00000508913.1:n.*618del
ENST00000686724.1:n.1666del (POMGNT1)
ENST00000686737.1:c.1494del (POMGNT1)	ENSP00000508736.1:p.Tyr499ThrfsTer10
ENST00000687112.1:n.2360del (POMGNT1)
ENST00000687149.1:c.1494del (POMGNT1)	ENSP00000509745.1:p.Tyr499ThrfsTer10
ENST00000687197.1:c.*434del (POMGNT1)	ENSP00000510749.1:n.*434del
ENST00000687235.1:n.2056del (POMGNT1)
ENST00000687613.1:n.2244del (POMGNT1)
ENST00000687683.1:c.1494del (POMGNT1)	ENSP00000508522.1:p.Tyr499ThrfsTer10
ENST00000688032.1:n.2056del (POMGNT1)
ENST00000688596.1:n.2145del (POMGNT1)
ENST00000688608.1:c.1395del (POMGNT1)	ENSP00000508890.1:p.Tyr466ThrfsTer10
ENST00000688919.1:n.2690del (POMGNT1)
ENST00000689031.1:n.2056del (POMGNT1)
ENST00000689717.1:n.1666del (POMGNT1)
ENST00000689756.1:c.*1126del (POMGNT1)	ENSP00000509023.1:n.*1126del
ENST00000690377.1:n.1841del (POMGNT1)
ENST00000690678.1:c.1494del (POMGNT1)	ENSP00000508703.1:p.Tyr499ThrfsTer10
ENST00000691209.1:c.*434del (POMGNT1)	ENSP00000510112.1:n.*434del
ENST00000691243.1:c.1494del (POMGNT1)	ENSP00000510654.1:p.Tyr499ThrfsTer10
ENST00000692169.1:n.1643del (POMGNT1)
ENST00000692202.1:n.2069del (POMGNT1)
ENST00000692322.1:c.*1346del (POMGNT1)	ENSP00000509017.1:n.*1346del
ENST00000692369.1:c.1494del (POMGNT1)	ENSP00000508453.1:p.Tyr499ThrfsTer10
ENST00000692599.1:n.2056del (POMGNT1)
ENST00000692635.1:c.*434del (POMGNT1)	ENSP00000508425.1:n.*434del
ENST00000693168.1:n.1755del (POMGNT1)
ENST00000693218.1:c.1494del (POMGNT1)	ENSP00000510577.1:p.Tyr499ThrfsTer10
ENST00000693223.1:n.2442del (POMGNT1)
ENST00000693365.1:n.4128del (POMGNT1)
ENST00000371984.8:c.1494del (POMGNT1) MANE Select	ENSP00000361052.3:p.Tyr499ThrfsTer10
ENST00000371984.7:c.1494del (POMGNT1)	ENSP00000361052.3:p.Tyr499ThrfsTer10
ENST00000371992.1:c.1494del (POMGNT1)	ENSP00000361060.1:p.Tyr499ThrfsTer10
ENST00000396420.7:c.*1163del (POMGNT1)	ENSP00000379698.3:n.*1163del
ENST00000463030.1:n.115del (POMGNT1)
ENST00000485714.1:n.880del (POMGNT1)
NM_001243766.1:c.1494del (POMGNT1)	NP_001230695.1:p.Tyr499ThrfsTer10
NM_001290129.1:c.1428del (POMGNT1)	NP_001277058.1:p.Tyr477ThrfsTer10
NM_001290130.1:c.1065del (POMGNT1)	NP_001277059.1:p.Tyr356ThrfsTer10
NM_017739.3:c.1494del (POMGNT1)	NP_060209.3:p.Tyr499ThrfsTer10
XM_005271010.1:c.1494del (POMGNT1)	XP_005271067.1:p.Tyr499ThrfsTer10
XM_006710755.1:c.1494del (POMGNT1)	XP_006710818.1:p.Tyr499ThrfsTer10
XM_006710756.1:c.1494del (POMGNT1)	XP_006710819.1:p.Tyr499ThrfsTer10
XM_011540460.1:c.679-4058del (TSPAN1)	XP_011538762.1:n.679-4058del
XM_011540461.1:c.634-4058del (TSPAN1)	XP_011538763.1:n.634-4058del
XM_011541759.1:c.1428del (POMGNT1)	XP_011540061.1:p.Tyr477ThrfsTer10
XM_011541760.1:c.1428del (POMGNT1)	XP_011540062.1:p.Tyr477ThrfsTer10
XM_011541761.1:c.402del (POMGNT1)	XP_011540063.1:p.Tyr135ThrfsTer10
XR_946706.1:n.1654del (POMGNT1)
XM_011540460.3:c.679-4058del (TSPAN1)	XP_011538762.1:n.679-4058del
XM_011541760.3:c.1428del (POMGNT1)	XP_011540062.1:p.Tyr477ThrfsTer10
XM_017001690.1:c.1494del (POMGNT1)	XP_016857179.1:p.Tyr499ThrfsTer10
NM_001243766.2:c.1494del (POMGNT1)	NP_001230695.2:p.Tyr499ThrfsTer10
NM_001290129.2:c.1428del (POMGNT1)	NP_001277058.2:p.Tyr477ThrfsTer10
NM_001290130.2:c.1065del (POMGNT1)	NP_001277059.2:p.Tyr356ThrfsTer10
NM_017739.4:c.1494del (POMGNT1) MANE Select	NP_060209.4:p.Tyr499ThrfsTer10