Canonical Allele Identifier: CA2740090694

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2950517
• ClinVar RCV Id: RCV003809827

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190524_46190525del , CM000663.2:g.46190524_46190525del	GRCh38
NC_000001.10:g.46656196_46656197del , CM000663.1:g.46656196_46656197del	GRCh37
NC_000001.9:g.46428783_46428784del	NCBI36
NG_009205.2:g.34783_34784del
NG_009205.3:g.34783_34784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-6_1605-5del (POMGNT1)	ENSP00000379698.4:n.1605-6_1605-5del
ENST00000477114.2:n.2167-6_2167-5del (POMGNT1)
ENST00000497439.6:n.1777-6_1777-5del (POMGNT1)
ENST00000684817.1:n.1965-6_1965-5del (POMGNT1)
ENST00000684898.1:n.2167-6_2167-5del (POMGNT1)
ENST00000685230.1:c.*915-6_*915-5del (POMGNT1)	ENSP00000510305.1:n.*915-6_*915-5del
ENST00000685275.1:n.2152-6_2152-5del (POMGNT1)
ENST00000685444.1:c.1506-6_1506-5del (POMGNT1)	ENSP00000510762.1:n.1506-6_1506-5del
ENST00000685704.1:n.2265_2266del (POMGNT1)
ENST00000685775.1:n.4641_4642del (POMGNT1)
ENST00000685833.1:n.3992_3993del (POMGNT1)
ENST00000686252.1:n.2679-6_2679-5del (POMGNT1)
ENST00000686379.1:c.*729-6_*729-5del (POMGNT1)	ENSP00000508913.1:n.*729-6_*729-5del
ENST00000686724.1:n.3286_3287del (POMGNT1)
ENST00000686737.1:c.1605-6_1605-5del (POMGNT1)	ENSP00000508736.1:n.1605-6_1605-5del
ENST00000687112.1:n.2471-6_2471-5del (POMGNT1)
ENST00000687149.1:c.1638_1639del (POMGNT1)	ENSP00000509745.1:p.Phe547GlnfsTer8
ENST00000687197.1:c.*545-6_*545-5del (POMGNT1)	ENSP00000510749.1:n.*545-6_*545-5del
ENST00000687235.1:n.3676_3677del (POMGNT1)
ENST00000687613.1:n.2290-534_2290-533del (POMGNT1)
ENST00000687683.1:c.1605-6_1605-5del (POMGNT1)	ENSP00000508522.1:n.1605-6_1605-5del
ENST00000688032.1:n.2142-6_2142-5del (POMGNT1)
ENST00000688596.1:n.2256-6_2256-5del (POMGNT1)
ENST00000688608.1:c.1506-6_1506-5del (POMGNT1)	ENSP00000508890.1:n.1506-6_1506-5del
ENST00000688919.1:n.2997_2998del (POMGNT1)
ENST00000689031.1:n.2102-534_2102-533del (POMGNT1)
ENST00000689717.1:n.1973_1974del (POMGNT1)
ENST00000689756.1:c.*1237-6_*1237-5del (POMGNT1)	ENSP00000509023.1:n.*1237-6_*1237-5del
ENST00000690377.1:n.1952-6_1952-5del (POMGNT1)
ENST00000690678.1:c.1605-6_1605-5del (POMGNT1)	ENSP00000508703.1:n.1605-6_1605-5del
ENST00000691209.1:c.*545-6_*545-5del (POMGNT1)	ENSP00000510112.1:n.*545-6_*545-5del
ENST00000691243.1:c.1580-6_1580-5del (POMGNT1)	ENSP00000510654.1:n.1580-6_1580-5del
ENST00000692169.1:n.3263_3264del (POMGNT1)
ENST00000692202.1:n.2180-6_2180-5del (POMGNT1)
ENST00000692322.1:c.*1392-6_*1392-5del (POMGNT1)	ENSP00000509017.1:n.*1392-6_*1392-5del
ENST00000692369.1:c.1605-6_1605-5del (POMGNT1)	ENSP00000508453.1:n.1605-6_1605-5del
ENST00000692599.1:n.3480-6_3480-5del (POMGNT1)
ENST00000692635.1:c.*480-6_*480-5del (POMGNT1)	ENSP00000508425.1:n.*480-6_*480-5del
ENST00000693168.1:n.3375_3376del (POMGNT1)
ENST00000693218.1:c.*160_*161del (POMGNT1)	ENSP00000510577.1:n.*160_*161del
ENST00000693223.1:n.2553-6_2553-5del (POMGNT1)
ENST00000693365.1:n.5748_5749del (POMGNT1)
ENST00000371984.8:c.1605-6_1605-5del (POMGNT1) MANE Select	ENSP00000361052.3:n.1605-6_1605-5del
ENST00000371984.7:c.1605-6_1605-5del (POMGNT1)	ENSP00000361052.3:n.1605-6_1605-5del
ENST00000371992.1:c.1605-6_1605-5del (POMGNT1)	ENSP00000361060.1:n.1605-6_1605-5del
ENST00000396420.7:c.*1274-6_*1274-5del (POMGNT1)	ENSP00000379698.3:n.*1274-6_*1274-5del
ENST00000480972.1:n.254-6_254-5del (POMGNT1)
ENST00000485714.1:n.2500_2501del (POMGNT1)
NM_001243766.1:c.1605-6_1605-5del (POMGNT1)	NP_001230695.1:n.1605-6_1605-5del
NM_001290129.1:c.1539-6_1539-5del (POMGNT1)	NP_001277058.1:n.1539-6_1539-5del
NM_001290130.1:c.1176-6_1176-5del (POMGNT1)	NP_001277059.1:n.1176-6_1176-5del
NM_017739.3:c.1605-6_1605-5del (POMGNT1)	NP_060209.3:n.1605-6_1605-5del
XM_005271010.1:c.1605-6_1605-5del (POMGNT1)	XP_005271067.1:n.1605-6_1605-5del
XM_006710755.1:c.1605-6_1605-5del (POMGNT1)	XP_006710818.1:n.1605-6_1605-5del
XM_006710756.1:c.1605-6_1605-5del (POMGNT1)	XP_006710819.1:n.1605-6_1605-5del
XM_011540460.1:c.678+5216_678+5217del (TSPAN1)	XP_011538762.1:n.678+5216_678+5217del
XM_011540461.1:c.633+5216_633+5217del (TSPAN1)	XP_011538763.1:n.633+5216_633+5217del
XM_011541759.1:c.1539-6_1539-5del (POMGNT1)	XP_011540061.1:n.1539-6_1539-5del
XM_011541760.1:c.1539-6_1539-5del (POMGNT1)	XP_011540062.1:n.1539-6_1539-5del
XM_011541761.1:c.513-6_513-5del (POMGNT1)	XP_011540063.1:n.513-6_513-5del
XM_011540460.3:c.678+5216_678+5217del (TSPAN1)	XP_011538762.1:n.678+5216_678+5217del
XM_011541760.3:c.1539-6_1539-5del (POMGNT1)	XP_011540062.1:n.1539-6_1539-5del
XM_017001690.1:c.1605-6_1605-5del (POMGNT1)	XP_016857179.1:n.1605-6_1605-5del
NM_001243766.2:c.1605-6_1605-5del (POMGNT1)	NP_001230695.2:n.1605-6_1605-5del
NM_001290129.2:c.1539-6_1539-5del (POMGNT1)	NP_001277058.2:n.1539-6_1539-5del
NM_001290130.2:c.1176-6_1176-5del (POMGNT1)	NP_001277059.2:n.1176-6_1176-5del
NM_017739.4:c.1605-6_1605-5del (POMGNT1) MANE Select	NP_060209.4:n.1605-6_1605-5del