Canonical Allele Identifier: CA2580611444

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1153034
• ClinVar RCV Id: RCV001494576
• dbSNP Id: rs2148172606

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190527_46190529del , CM000663.2:g.46190527_46190529del	GRCh38
NC_000001.10:g.46656199_46656201del , CM000663.1:g.46656199_46656201del	GRCh37
NC_000001.9:g.46428786_46428788del	NCBI36
NG_009205.2:g.34781_34783del
NG_009205.3:g.34781_34783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-8_1605-6del (POMGNT1)	ENSP00000379698.4:n.1605-8_1605-6del
ENST00000477114.2:n.2167-8_2167-6del (POMGNT1)
ENST00000497439.6:n.1777-8_1777-6del (POMGNT1)
ENST00000684817.1:n.1965-8_1965-6del (POMGNT1)
ENST00000684898.1:n.2167-8_2167-6del (POMGNT1)
ENST00000685230.1:c.*915-8_*915-6del (POMGNT1)	ENSP00000510305.1:n.*915-8_*915-6del
ENST00000685275.1:n.2152-8_2152-6del (POMGNT1)
ENST00000685444.1:c.1506-8_1506-6del (POMGNT1)	ENSP00000510762.1:n.1506-8_1506-6del
ENST00000685704.1:n.2263_2265del (POMGNT1)
ENST00000685775.1:n.4639_4641del (POMGNT1)
ENST00000685833.1:n.3990_3992del (POMGNT1)
ENST00000686252.1:n.2679-8_2679-6del (POMGNT1)
ENST00000686379.1:c.*729-8_*729-6del (POMGNT1)	ENSP00000508913.1:n.*729-8_*729-6del
ENST00000686724.1:n.3284_3286del (POMGNT1)
ENST00000686737.1:c.1605-8_1605-6del (POMGNT1)	ENSP00000508736.1:n.1605-8_1605-6del
ENST00000687112.1:n.2471-8_2471-6del (POMGNT1)
ENST00000687149.1:c.1636_1638del (POMGNT1)	ENSP00000509745.1:p.Leu546del
ENST00000687197.1:c.*545-8_*545-6del (POMGNT1)	ENSP00000510749.1:n.*545-8_*545-6del
ENST00000687235.1:n.3674_3676del (POMGNT1)
ENST00000687613.1:n.2290-536_2290-534del (POMGNT1)
ENST00000687683.1:c.1605-8_1605-6del (POMGNT1)	ENSP00000508522.1:n.1605-8_1605-6del
ENST00000688032.1:n.2142-8_2142-6del (POMGNT1)
ENST00000688596.1:n.2256-8_2256-6del (POMGNT1)
ENST00000688608.1:c.1506-8_1506-6del (POMGNT1)	ENSP00000508890.1:n.1506-8_1506-6del
ENST00000688919.1:n.2995_2997del (POMGNT1)
ENST00000689031.1:n.2102-536_2102-534del (POMGNT1)
ENST00000689717.1:n.1971_1973del (POMGNT1)
ENST00000689756.1:c.*1237-8_*1237-6del (POMGNT1)	ENSP00000509023.1:n.*1237-8_*1237-6del
ENST00000690377.1:n.1952-8_1952-6del (POMGNT1)
ENST00000690678.1:c.1605-8_1605-6del (POMGNT1)	ENSP00000508703.1:n.1605-8_1605-6del
ENST00000691209.1:c.*545-8_*545-6del (POMGNT1)	ENSP00000510112.1:n.*545-8_*545-6del
ENST00000691243.1:c.1580-8_1580-6del (POMGNT1)	ENSP00000510654.1:n.1580-8_1580-6del
ENST00000692169.1:n.3261_3263del (POMGNT1)
ENST00000692202.1:n.2180-8_2180-6del (POMGNT1)
ENST00000692322.1:c.*1392-8_*1392-6del (POMGNT1)	ENSP00000509017.1:n.*1392-8_*1392-6del
ENST00000692369.1:c.1605-8_1605-6del (POMGNT1)	ENSP00000508453.1:n.1605-8_1605-6del
ENST00000692599.1:n.3480-8_3480-6del (POMGNT1)
ENST00000692635.1:c.*480-8_*480-6del (POMGNT1)	ENSP00000508425.1:n.*480-8_*480-6del
ENST00000693168.1:n.3373_3375del (POMGNT1)
ENST00000693218.1:c.*158_*160del (POMGNT1)	ENSP00000510577.1:n.*158_*160del
ENST00000693223.1:n.2553-8_2553-6del (POMGNT1)
ENST00000693365.1:n.5746_5748del (POMGNT1)
ENST00000371984.8:c.1605-8_1605-6del (POMGNT1) MANE Select	ENSP00000361052.3:n.1605-8_1605-6del
ENST00000371984.7:c.1605-8_1605-6del (POMGNT1)	ENSP00000361052.3:n.1605-8_1605-6del
ENST00000371992.1:c.1605-8_1605-6del (POMGNT1)	ENSP00000361060.1:n.1605-8_1605-6del
ENST00000396420.7:c.*1274-8_*1274-6del (POMGNT1)	ENSP00000379698.3:n.*1274-8_*1274-6del
ENST00000480972.1:n.254-8_254-6del (POMGNT1)
ENST00000485714.1:n.2498_2500del (POMGNT1)
NM_001243766.1:c.1605-8_1605-6del (POMGNT1)	NP_001230695.1:n.1605-8_1605-6del
NM_001290129.1:c.1539-8_1539-6del (POMGNT1)	NP_001277058.1:n.1539-8_1539-6del
NM_001290130.1:c.1176-8_1176-6del (POMGNT1)	NP_001277059.1:n.1176-8_1176-6del
NM_017739.3:c.1605-8_1605-6del (POMGNT1)	NP_060209.3:n.1605-8_1605-6del
XM_005271010.1:c.1605-8_1605-6del (POMGNT1)	XP_005271067.1:n.1605-8_1605-6del
XM_006710755.1:c.1605-8_1605-6del (POMGNT1)	XP_006710818.1:n.1605-8_1605-6del
XM_006710756.1:c.1605-8_1605-6del (POMGNT1)	XP_006710819.1:n.1605-8_1605-6del
XM_011540460.1:c.678+5219_678+5221del (TSPAN1)	XP_011538762.1:n.678+5219_678+5221del
XM_011540461.1:c.633+5219_633+5221del (TSPAN1)	XP_011538763.1:n.633+5219_633+5221del
XM_011541759.1:c.1539-8_1539-6del (POMGNT1)	XP_011540061.1:n.1539-8_1539-6del
XM_011541760.1:c.1539-8_1539-6del (POMGNT1)	XP_011540062.1:n.1539-8_1539-6del
XM_011541761.1:c.513-8_513-6del (POMGNT1)	XP_011540063.1:n.513-8_513-6del
XM_011540460.3:c.678+5219_678+5221del (TSPAN1)	XP_011538762.1:n.678+5219_678+5221del
XM_011541760.3:c.1539-8_1539-6del (POMGNT1)	XP_011540062.1:n.1539-8_1539-6del
XM_017001690.1:c.1605-8_1605-6del (POMGNT1)	XP_016857179.1:n.1605-8_1605-6del
NM_001243766.2:c.1605-8_1605-6del (POMGNT1)	NP_001230695.2:n.1605-8_1605-6del
NM_001290129.2:c.1539-8_1539-6del (POMGNT1)	NP_001277058.2:n.1539-8_1539-6del
NM_001290130.2:c.1176-8_1176-6del (POMGNT1)	NP_001277059.2:n.1176-8_1176-6del
NM_017739.4:c.1605-8_1605-6del (POMGNT1) MANE Select	NP_060209.4:n.1605-8_1605-6del