Canonical Allele Identifier: CA1001299800

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1657687225
• gnomAD v3: 1-46190579-CTGAGCAGGGCAAGGGGTCACATGGGAATCTGT-C
• gnomAD v4: 1-46190579-CTGAGCAGGGCAAGGGGTCACATGGGAATCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190580_46190611del , CM000663.2:g.46190580_46190611del	GRCh38
NC_000001.10:g.46656252_46656283del , CM000663.1:g.46656252_46656283del	GRCh37
NC_000001.9:g.46428839_46428870del	NCBI36
NG_009205.2:g.34695_34726del
NG_009205.3:g.34695_34726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-94_1605-63del (POMGNT1)	ENSP00000379698.4:n.1605-94_1605-63del
ENST00000477114.2:n.2167-94_2167-63del (POMGNT1)
ENST00000497439.6:n.1777-94_1777-63del (POMGNT1)
ENST00000684817.1:n.1965-94_1965-63del (POMGNT1)
ENST00000684898.1:n.2167-94_2167-63del (POMGNT1)
ENST00000685230.1:c.*915-94_*915-63del (POMGNT1)	ENSP00000510305.1:n.*915-94_*915-63del
ENST00000685275.1:n.2152-94_2152-63del (POMGNT1)
ENST00000685444.1:c.1506-94_1506-63del (POMGNT1)	ENSP00000510762.1:n.1506-94_1506-63del
ENST00000685704.1:n.2177_2208del (POMGNT1)
ENST00000685775.1:n.4553_4584del (POMGNT1)
ENST00000685833.1:n.3904_3935del (POMGNT1)
ENST00000686252.1:n.2679-94_2679-63del (POMGNT1)
ENST00000686379.1:c.*729-94_*729-63del (POMGNT1)	ENSP00000508913.1:n.*729-94_*729-63del
ENST00000686724.1:n.3198_3229del (POMGNT1)
ENST00000686737.1:c.1605-94_1605-63del (POMGNT1)	ENSP00000508736.1:n.1605-94_1605-63del
ENST00000687112.1:n.2471-94_2471-63del (POMGNT1)
ENST00000687149.1:c.1550_1581del (POMGNT1)	ENSP00000509745.1:p.Tyr517CysfsTer7
ENST00000687197.1:c.*545-94_*545-63del (POMGNT1)	ENSP00000510749.1:n.*545-94_*545-63del
ENST00000687235.1:n.3588_3619del (POMGNT1)
ENST00000687613.1:n.2290-622_2290-591del (POMGNT1)
ENST00000687683.1:c.1605-94_1605-63del (POMGNT1)	ENSP00000508522.1:n.1605-94_1605-63del
ENST00000688032.1:n.2142-94_2142-63del (POMGNT1)
ENST00000688596.1:n.2256-94_2256-63del (POMGNT1)
ENST00000688608.1:c.1506-94_1506-63del (POMGNT1)	ENSP00000508890.1:n.1506-94_1506-63del
ENST00000688919.1:n.2909_2940del (POMGNT1)
ENST00000689031.1:n.2102-622_2102-591del (POMGNT1)
ENST00000689717.1:n.1885_1916del (POMGNT1)
ENST00000689756.1:c.*1237-94_*1237-63del (POMGNT1)	ENSP00000509023.1:n.*1237-94_*1237-63del
ENST00000690377.1:n.1952-94_1952-63del (POMGNT1)
ENST00000690678.1:c.1605-94_1605-63del (POMGNT1)	ENSP00000508703.1:n.1605-94_1605-63del
ENST00000691209.1:c.*545-94_*545-63del (POMGNT1)	ENSP00000510112.1:n.*545-94_*545-63del
ENST00000691243.1:c.1580-94_1580-63del (POMGNT1)	ENSP00000510654.1:n.1580-94_1580-63del
ENST00000692169.1:n.3175_3206del (POMGNT1)
ENST00000692202.1:n.2180-94_2180-63del (POMGNT1)
ENST00000692322.1:c.*1392-94_*1392-63del (POMGNT1)	ENSP00000509017.1:n.*1392-94_*1392-63del
ENST00000692369.1:c.1605-94_1605-63del (POMGNT1)	ENSP00000508453.1:n.1605-94_1605-63del
ENST00000692599.1:n.3480-94_3480-63del (POMGNT1)
ENST00000692635.1:c.*480-94_*480-63del (POMGNT1)	ENSP00000508425.1:n.*480-94_*480-63del
ENST00000693168.1:n.3287_3318del (POMGNT1)
ENST00000693218.1:c.*72_*103del (POMGNT1)	ENSP00000510577.1:n.*72_*103del
ENST00000693223.1:n.2553-94_2553-63del (POMGNT1)
ENST00000693365.1:n.5660_5691del (POMGNT1)
ENST00000371984.8:c.1605-94_1605-63del (POMGNT1) MANE Select	ENSP00000361052.3:n.1605-94_1605-63del
ENST00000371984.7:c.1605-94_1605-63del (POMGNT1)	ENSP00000361052.3:n.1605-94_1605-63del
ENST00000371992.1:c.1605-94_1605-63del (POMGNT1)	ENSP00000361060.1:n.1605-94_1605-63del
ENST00000396420.7:c.*1274-94_*1274-63del (POMGNT1)	ENSP00000379698.3:n.*1274-94_*1274-63del
ENST00000480972.1:n.254-94_254-63del (POMGNT1)
ENST00000485714.1:n.2412_2443del (POMGNT1)
NM_001243766.1:c.1605-94_1605-63del (POMGNT1)	NP_001230695.1:n.1605-94_1605-63del
NM_001290129.1:c.1539-94_1539-63del (POMGNT1)	NP_001277058.1:n.1539-94_1539-63del
NM_001290130.1:c.1176-94_1176-63del (POMGNT1)	NP_001277059.1:n.1176-94_1176-63del
NM_017739.3:c.1605-94_1605-63del (POMGNT1)	NP_060209.3:n.1605-94_1605-63del
XM_005271010.1:c.1605-94_1605-63del (POMGNT1)	XP_005271067.1:n.1605-94_1605-63del
XM_006710755.1:c.1605-94_1605-63del (POMGNT1)	XP_006710818.1:n.1605-94_1605-63del
XM_006710756.1:c.1605-94_1605-63del (POMGNT1)	XP_006710819.1:n.1605-94_1605-63del
XM_011540460.1:c.678+5272_678+5303del (TSPAN1)	XP_011538762.1:n.678+5272_678+5303del
XM_011540461.1:c.633+5272_633+5303del (TSPAN1)	XP_011538763.1:n.633+5272_633+5303del
XM_011541759.1:c.1539-94_1539-63del (POMGNT1)	XP_011540061.1:n.1539-94_1539-63del
XM_011541760.1:c.1539-94_1539-63del (POMGNT1)	XP_011540062.1:n.1539-94_1539-63del
XM_011541761.1:c.513-94_513-63del (POMGNT1)	XP_011540063.1:n.513-94_513-63del
XM_011540460.3:c.678+5272_678+5303del (TSPAN1)	XP_011538762.1:n.678+5272_678+5303del
XM_011541760.3:c.1539-94_1539-63del (POMGNT1)	XP_011540062.1:n.1539-94_1539-63del
XM_017001690.1:c.1605-94_1605-63del (POMGNT1)	XP_016857179.1:n.1605-94_1605-63del
NM_001243766.2:c.1605-94_1605-63del (POMGNT1)	NP_001230695.2:n.1605-94_1605-63del
NM_001290129.2:c.1539-94_1539-63del (POMGNT1)	NP_001277058.2:n.1539-94_1539-63del
NM_001290130.2:c.1176-94_1176-63del (POMGNT1)	NP_001277059.2:n.1176-94_1176-63del
NM_017739.4:c.1605-94_1605-63del (POMGNT1) MANE Select	NP_060209.4:n.1605-94_1605-63del