Canonical Allele Identifier: CA2645441107

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192147-CGGGAAACG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192148_46192155del , CM000663.2:g.46192148_46192155del	GRCh38
NC_000001.10:g.46657820_46657827del , CM000663.1:g.46657820_46657827del	GRCh37
NC_000001.9:g.46430407_46430414del	NCBI36
NG_009205.2:g.33151_33158del
NG_009205.3:g.33151_33158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1482_1489del (POMGNT1)	ENSP00000379698.4:p.Asp494GlufsTer?
ENST00000477114.2:n.2044_2051del (POMGNT1)
ENST00000497439.6:n.1654_1661del (POMGNT1)
ENST00000684817.1:n.1842_1849del (POMGNT1)
ENST00000684898.1:n.2044_2051del (POMGNT1)
ENST00000685230.1:c.*792_*799del (POMGNT1)	ENSP00000510305.1:n.*792_*799del
ENST00000685275.1:n.2029_2036del (POMGNT1)
ENST00000685444.1:c.1383_1390del (POMGNT1)	ENSP00000510762.1:p.Asp461GlufsTer?
ENST00000685704.1:n.2044_2051del (POMGNT1)
ENST00000685775.1:n.3009_3016del (POMGNT1)
ENST00000685833.1:n.2360_2367del (POMGNT1)
ENST00000686252.1:n.2556_2563del (POMGNT1)
ENST00000686379.1:c.*606_*613del (POMGNT1)	ENSP00000508913.1:n.*606_*613del
ENST00000686724.1:n.1654_1661del (POMGNT1)
ENST00000686737.1:c.1482_1489del (POMGNT1)	ENSP00000508736.1:p.Asp494GlufsTer?
ENST00000687112.1:n.2348_2355del (POMGNT1)
ENST00000687149.1:c.1482_1489del (POMGNT1)	ENSP00000509745.1:p.Asp494GlufsTer26
ENST00000687197.1:c.*422_*429del (POMGNT1)	ENSP00000510749.1:n.*422_*429del
ENST00000687235.1:n.2044_2051del (POMGNT1)
ENST00000687613.1:n.2232_2239del (POMGNT1)
ENST00000687683.1:c.1482_1489del (POMGNT1)	ENSP00000508522.1:p.Asp494GlufsTer?
ENST00000688032.1:n.2044_2051del (POMGNT1)
ENST00000688596.1:n.2133_2140del (POMGNT1)
ENST00000688608.1:c.1383_1390del (POMGNT1)	ENSP00000508890.1:p.Asp461GlufsTer?
ENST00000688919.1:n.2678_2685del (POMGNT1)
ENST00000689031.1:n.2044_2051del (POMGNT1)
ENST00000689717.1:n.1654_1661del (POMGNT1)
ENST00000689756.1:c.*1114_*1121del (POMGNT1)	ENSP00000509023.1:n.*1114_*1121del
ENST00000690377.1:n.1829_1836del (POMGNT1)
ENST00000690678.1:c.1482_1489del (POMGNT1)	ENSP00000508703.1:p.Asp494GlufsTer?
ENST00000691209.1:c.*422_*429del (POMGNT1)	ENSP00000510112.1:n.*422_*429del
ENST00000691243.1:c.1482_1489del (POMGNT1)	ENSP00000510654.1:p.Asp494GlufsTer?
ENST00000692169.1:n.1631_1638del (POMGNT1)
ENST00000692202.1:n.2057_2064del (POMGNT1)
ENST00000692322.1:c.*1334_*1341del (POMGNT1)	ENSP00000509017.1:n.*1334_*1341del
ENST00000692369.1:c.1482_1489del (POMGNT1)	ENSP00000508453.1:p.Asp494GlufsTer?
ENST00000692599.1:n.2044_2051del (POMGNT1)
ENST00000692635.1:c.*422_*429del (POMGNT1)	ENSP00000508425.1:n.*422_*429del
ENST00000693168.1:n.1743_1750del (POMGNT1)
ENST00000693218.1:c.1482_1489del (POMGNT1)	ENSP00000510577.1:p.Asp494GlufsTer?
ENST00000693223.1:n.2430_2437del (POMGNT1)
ENST00000693365.1:n.4116_4123del (POMGNT1)
ENST00000371984.8:c.1482_1489del (POMGNT1) MANE Select	ENSP00000361052.3:p.Asp494GlufsTer?
ENST00000371984.7:c.1482_1489del (POMGNT1)	ENSP00000361052.3:p.Asp494GlufsTer?
ENST00000371992.1:c.1482_1489del (POMGNT1)	ENSP00000361060.1:p.Asp494GlufsTer?
ENST00000396420.7:c.*1151_*1158del (POMGNT1)	ENSP00000379698.3:n.*1151_*1158del
ENST00000463030.1:n.103_110del (POMGNT1)
ENST00000485714.1:n.868_875del (POMGNT1)
NM_001243766.1:c.1482_1489del (POMGNT1)	NP_001230695.1:p.Asp494GlufsTer?
NM_001290129.1:c.1416_1423del (POMGNT1)	NP_001277058.1:p.Asp472GlufsTer?
NM_001290130.1:c.1053_1060del (POMGNT1)	NP_001277059.1:p.Asp351GlufsTer?
NM_017739.3:c.1482_1489del (POMGNT1)	NP_060209.3:p.Asp494GlufsTer?
XM_005271010.1:c.1482_1489del (POMGNT1)	XP_005271067.1:p.Asp494GlufsTer?
XM_006710755.1:c.1482_1489del (POMGNT1)	XP_006710818.1:p.Asp494GlufsTer?
XM_006710756.1:c.1482_1489del (POMGNT1)	XP_006710819.1:p.Asp494GlufsTer?
XM_011540460.1:c.679-4054_679-4047del (TSPAN1)	XP_011538762.1:n.679-4054_679-4047del
XM_011540461.1:c.634-4054_634-4047del (TSPAN1)	XP_011538763.1:n.634-4054_634-4047del
XM_011541759.1:c.1416_1423del (POMGNT1)	XP_011540061.1:p.Asp472GlufsTer?
XM_011541760.1:c.1416_1423del (POMGNT1)	XP_011540062.1:p.Asp472GlufsTer?
XM_011541761.1:c.390_397del (POMGNT1)	XP_011540063.1:p.Asp130GlufsTer?
XR_946706.1:n.1642_1649del (POMGNT1)
XM_011540460.3:c.679-4054_679-4047del (TSPAN1)	XP_011538762.1:n.679-4054_679-4047del
XM_011541760.3:c.1416_1423del (POMGNT1)	XP_011540062.1:p.Asp472GlufsTer?
XM_017001690.1:c.1482_1489del (POMGNT1)	XP_016857179.1:p.Asp494GlufsTer?
NM_001243766.2:c.1482_1489del (POMGNT1)	NP_001230695.2:p.Asp494GlufsTer?
NM_001290129.2:c.1416_1423del (POMGNT1)	NP_001277058.2:p.Asp472GlufsTer?
NM_001290130.2:c.1053_1060del (POMGNT1)	NP_001277059.2:p.Asp351GlufsTer?
NM_017739.4:c.1482_1489del (POMGNT1) MANE Select	NP_060209.4:p.Asp494GlufsTer?