Canonical Allele Identifier: CA2645439864

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190519-TGAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190521_46190525del , CM000663.2:g.46190521_46190525del	GRCh38
NC_000001.10:g.46656193_46656197del , CM000663.1:g.46656193_46656197del	GRCh37
NC_000001.9:g.46428780_46428784del	NCBI36
NG_009205.2:g.34782_34786del
NG_009205.3:g.34782_34786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-7_1605-3del (POMGNT1)	ENSP00000379698.4:n.1605-7_1605-3del
ENST00000477114.2:n.2167-7_2167-3del (POMGNT1)
ENST00000497439.6:n.1777-7_1777-3del (POMGNT1)
ENST00000684817.1:n.1965-7_1965-3del (POMGNT1)
ENST00000684898.1:n.2167-7_2167-3del (POMGNT1)
ENST00000685230.1:c.*915-7_*915-3del (POMGNT1)	ENSP00000510305.1:n.*915-7_*915-3del
ENST00000685275.1:n.2152-7_2152-3del (POMGNT1)
ENST00000685444.1:c.1506-7_1506-3del (POMGNT1)	ENSP00000510762.1:n.1506-7_1506-3del
ENST00000685704.1:n.2264_2268del (POMGNT1)
ENST00000685775.1:n.4640_4644del (POMGNT1)
ENST00000685833.1:n.3991_3995del (POMGNT1)
ENST00000686252.1:n.2679-7_2679-3del (POMGNT1)
ENST00000686379.1:c.*729-7_*729-3del (POMGNT1)	ENSP00000508913.1:n.*729-7_*729-3del
ENST00000686724.1:n.3285_3289del (POMGNT1)
ENST00000686737.1:c.1605-7_1605-3del (POMGNT1)	ENSP00000508736.1:n.1605-7_1605-3del
ENST00000687112.1:n.2471-7_2471-3del (POMGNT1)
ENST00000687149.1:c.1637_1641del (POMGNT1)	ENSP00000509745.1:p.Leu546GlnfsTer8
ENST00000687197.1:c.*545-7_*545-3del (POMGNT1)	ENSP00000510749.1:n.*545-7_*545-3del
ENST00000687235.1:n.3675_3679del (POMGNT1)
ENST00000687613.1:n.2290-535_2290-531del (POMGNT1)
ENST00000687683.1:c.1605-7_1605-3del (POMGNT1)	ENSP00000508522.1:n.1605-7_1605-3del
ENST00000688032.1:n.2142-7_2142-3del (POMGNT1)
ENST00000688596.1:n.2256-7_2256-3del (POMGNT1)
ENST00000688608.1:c.1506-7_1506-3del (POMGNT1)	ENSP00000508890.1:n.1506-7_1506-3del
ENST00000688919.1:n.2996_3000del (POMGNT1)
ENST00000689031.1:n.2102-535_2102-531del (POMGNT1)
ENST00000689717.1:n.1972_1976del (POMGNT1)
ENST00000689756.1:c.*1237-7_*1237-3del (POMGNT1)	ENSP00000509023.1:n.*1237-7_*1237-3del
ENST00000690377.1:n.1952-7_1952-3del (POMGNT1)
ENST00000690678.1:c.1605-7_1605-3del (POMGNT1)	ENSP00000508703.1:n.1605-7_1605-3del
ENST00000691209.1:c.*545-7_*545-3del (POMGNT1)	ENSP00000510112.1:n.*545-7_*545-3del
ENST00000691243.1:c.1580-7_1580-3del (POMGNT1)	ENSP00000510654.1:n.1580-7_1580-3del
ENST00000692169.1:n.3262_3266del (POMGNT1)
ENST00000692202.1:n.2180-7_2180-3del (POMGNT1)
ENST00000692322.1:c.*1392-7_*1392-3del (POMGNT1)	ENSP00000509017.1:n.*1392-7_*1392-3del
ENST00000692369.1:c.1605-7_1605-3del (POMGNT1)	ENSP00000508453.1:n.1605-7_1605-3del
ENST00000692599.1:n.3480-7_3480-3del (POMGNT1)
ENST00000692635.1:c.*480-7_*480-3del (POMGNT1)	ENSP00000508425.1:n.*480-7_*480-3del
ENST00000693168.1:n.3374_3378del (POMGNT1)
ENST00000693218.1:c.*159_*163del (POMGNT1)	ENSP00000510577.1:n.*159_*163del
ENST00000693223.1:n.2553-7_2553-3del (POMGNT1)
ENST00000693365.1:n.5747_5751del (POMGNT1)
ENST00000371984.8:c.1605-7_1605-3del (POMGNT1) MANE Select	ENSP00000361052.3:n.1605-7_1605-3del
ENST00000371984.7:c.1605-7_1605-3del (POMGNT1)	ENSP00000361052.3:n.1605-7_1605-3del
ENST00000371992.1:c.1605-7_1605-3del (POMGNT1)	ENSP00000361060.1:n.1605-7_1605-3del
ENST00000396420.7:c.*1274-7_*1274-3del (POMGNT1)	ENSP00000379698.3:n.*1274-7_*1274-3del
ENST00000480972.1:n.254-7_254-3del (POMGNT1)
ENST00000485714.1:n.2499_2503del (POMGNT1)
NM_001243766.1:c.1605-7_1605-3del (POMGNT1)	NP_001230695.1:n.1605-7_1605-3del
NM_001290129.1:c.1539-7_1539-3del (POMGNT1)	NP_001277058.1:n.1539-7_1539-3del
NM_001290130.1:c.1176-7_1176-3del (POMGNT1)	NP_001277059.1:n.1176-7_1176-3del
NM_017739.3:c.1605-7_1605-3del (POMGNT1)	NP_060209.3:n.1605-7_1605-3del
XM_005271010.1:c.1605-7_1605-3del (POMGNT1)	XP_005271067.1:n.1605-7_1605-3del
XM_006710755.1:c.1605-7_1605-3del (POMGNT1)	XP_006710818.1:n.1605-7_1605-3del
XM_006710756.1:c.1605-7_1605-3del (POMGNT1)	XP_006710819.1:n.1605-7_1605-3del
XM_011540460.1:c.678+5213_678+5217del (TSPAN1)	XP_011538762.1:n.678+5213_678+5217del
XM_011540461.1:c.633+5213_633+5217del (TSPAN1)	XP_011538763.1:n.633+5213_633+5217del
XM_011541759.1:c.1539-7_1539-3del (POMGNT1)	XP_011540061.1:n.1539-7_1539-3del
XM_011541760.1:c.1539-7_1539-3del (POMGNT1)	XP_011540062.1:n.1539-7_1539-3del
XM_011541761.1:c.513-7_513-3del (POMGNT1)	XP_011540063.1:n.513-7_513-3del
XM_011540460.3:c.678+5213_678+5217del (TSPAN1)	XP_011538762.1:n.678+5213_678+5217del
XM_011541760.3:c.1539-7_1539-3del (POMGNT1)	XP_011540062.1:n.1539-7_1539-3del
XM_017001690.1:c.1605-7_1605-3del (POMGNT1)	XP_016857179.1:n.1605-7_1605-3del
NM_001243766.2:c.1605-7_1605-3del (POMGNT1)	NP_001230695.2:n.1605-7_1605-3del
NM_001290129.2:c.1539-7_1539-3del (POMGNT1)	NP_001277058.2:n.1539-7_1539-3del
NM_001290130.2:c.1176-7_1176-3del (POMGNT1)	NP_001277059.2:n.1176-7_1176-3del
NM_017739.4:c.1605-7_1605-3del (POMGNT1) MANE Select	NP_060209.4:n.1605-7_1605-3del