Canonical Allele Identifier: CA2474081214

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1657634607

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190043_46190044del , CM000663.2:g.46190043_46190044del	GRCh38
NC_000001.10:g.46655715_46655716del , CM000663.1:g.46655715_46655716del	GRCh37
NC_000001.9:g.46428302_46428303del	NCBI36
NG_009205.2:g.35266_35267del
NG_009205.3:g.35266_35267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-51_1650-50del (POMGNT1)	ENSP00000379698.4:n.1650-51_1650-50del
ENST00000497439.6:n.1822-51_1822-50del (POMGNT1)
ENST00000684817.1:n.2010-51_2010-50del (POMGNT1)
ENST00000684898.1:n.2212-51_2212-50del (POMGNT1)
ENST00000685230.1:c.*960-51_*960-50del (POMGNT1)	ENSP00000510305.1:n.*960-51_*960-50del
ENST00000685275.1:n.2197-51_2197-50del (POMGNT1)
ENST00000685444.1:c.1551-51_1551-50del (POMGNT1)	ENSP00000510762.1:n.1551-51_1551-50del
ENST00000685704.1:n.2316-51_2316-50del (POMGNT1)
ENST00000685833.1:n.4043-51_4043-50del (POMGNT1)
ENST00000686252.1:n.2724-51_2724-50del (POMGNT1)
ENST00000686379.1:c.*774-51_*774-50del (POMGNT1)	ENSP00000508913.1:n.*774-51_*774-50del
ENST00000686724.1:n.3337-51_3337-50del (POMGNT1)
ENST00000686737.1:c.1650-51_1650-50del (POMGNT1)	ENSP00000508736.1:n.1650-51_1650-50del
ENST00000687112.1:n.2516-51_2516-50del (POMGNT1)
ENST00000687149.1:c.1689-51_1689-50del (POMGNT1)	ENSP00000509745.1:n.1689-51_1689-50del
ENST00000687197.1:c.*590-51_*590-50del (POMGNT1)	ENSP00000510749.1:n.*590-51_*590-50del
ENST00000687235.1:n.3727-51_3727-50del (POMGNT1)
ENST00000687613.1:n.2290-51_2290-50del (POMGNT1)
ENST00000687683.1:c.1650-51_1650-50del (POMGNT1)	ENSP00000508522.1:n.1650-51_1650-50del
ENST00000688032.1:n.2187-51_2187-50del (POMGNT1)
ENST00000688596.1:n.2301-51_2301-50del (POMGNT1)
ENST00000688608.1:c.1551-51_1551-50del (POMGNT1)	ENSP00000508890.1:n.1551-51_1551-50del
ENST00000689031.1:n.2102-51_2102-50del (POMGNT1)
ENST00000689756.1:c.*1282-51_*1282-50del (POMGNT1)	ENSP00000509023.1:n.*1282-51_*1282-50del
ENST00000690377.1:n.1997-51_1997-50del (POMGNT1)
ENST00000690678.1:c.1650-51_1650-50del (POMGNT1)	ENSP00000508703.1:n.1650-51_1650-50del
ENST00000691209.1:c.*590-51_*590-50del (POMGNT1)	ENSP00000510112.1:n.*590-51_*590-50del
ENST00000691243.1:c.*41-51_*41-50del (POMGNT1)	ENSP00000510654.1:n.*41-51_*41-50del
ENST00000692202.1:n.2225-51_2225-50del (POMGNT1)
ENST00000692322.1:c.*1437-51_*1437-50del (POMGNT1)	ENSP00000509017.1:n.*1437-51_*1437-50del
ENST00000692369.1:c.1650-51_1650-50del (POMGNT1)	ENSP00000508453.1:n.1650-51_1650-50del
ENST00000692599.1:n.3525-51_3525-50del (POMGNT1)
ENST00000692635.1:c.*525-51_*525-50del (POMGNT1)	ENSP00000508425.1:n.*525-51_*525-50del
ENST00000693168.1:n.3426-51_3426-50del (POMGNT1)
ENST00000693218.1:c.*211-51_*211-50del (POMGNT1)	ENSP00000510577.1:n.*211-51_*211-50del
ENST00000693223.1:n.2598-51_2598-50del (POMGNT1)
ENST00000371984.8:c.1650-51_1650-50del (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-51_1650-50del
ENST00000371984.7:c.1650-51_1650-50del (POMGNT1)	ENSP00000361052.3:n.1650-51_1650-50del
ENST00000371992.1:c.1650-51_1650-50del (POMGNT1)	ENSP00000361060.1:n.1650-51_1650-50del
ENST00000396420.7:c.*1319-51_*1319-50del (POMGNT1)	ENSP00000379698.3:n.*1319-51_*1319-50del
ENST00000480972.1:n.299-51_299-50del (POMGNT1)
NM_001243766.1:c.1650-51_1650-50del (POMGNT1)	NP_001230695.1:n.1650-51_1650-50del
NM_001290129.1:c.1584-51_1584-50del (POMGNT1)	NP_001277058.1:n.1584-51_1584-50del
NM_001290130.1:c.1221-51_1221-50del (POMGNT1)	NP_001277059.1:n.1221-51_1221-50del
NM_017739.3:c.1650-51_1650-50del (POMGNT1)	NP_060209.3:n.1650-51_1650-50del
XM_005271010.1:c.1650-51_1650-50del (POMGNT1)	XP_005271067.1:n.1650-51_1650-50del
XM_006710755.1:c.1650-51_1650-50del (POMGNT1)	XP_006710818.1:n.1650-51_1650-50del
XM_006710756.1:c.1650-51_1650-50del (POMGNT1)	XP_006710819.1:n.1650-51_1650-50del
XM_011540460.1:c.678+4735_678+4736del (TSPAN1)	XP_011538762.1:n.678+4735_678+4736del
XM_011540461.1:c.633+4735_633+4736del (TSPAN1)	XP_011538763.1:n.633+4735_633+4736del
XM_011541759.1:c.1584-51_1584-50del (POMGNT1)	XP_011540061.1:n.1584-51_1584-50del
XM_011541760.1:c.1584-51_1584-50del (POMGNT1)	XP_011540062.1:n.1584-51_1584-50del
XM_011541761.1:c.558-51_558-50del (POMGNT1)	XP_011540063.1:n.558-51_558-50del
XM_011540460.3:c.678+4735_678+4736del (TSPAN1)	XP_011538762.1:n.678+4735_678+4736del
XM_011541760.3:c.1584-51_1584-50del (POMGNT1)	XP_011540062.1:n.1584-51_1584-50del
XM_017001690.1:c.1650-51_1650-50del (POMGNT1)	XP_016857179.1:n.1650-51_1650-50del
NM_001243766.2:c.1650-51_1650-50del (POMGNT1)	NP_001230695.2:n.1650-51_1650-50del
NM_001290129.2:c.1584-51_1584-50del (POMGNT1)	NP_001277058.2:n.1584-51_1584-50del
NM_001290130.2:c.1221-51_1221-50del (POMGNT1)	NP_001277059.2:n.1221-51_1221-50del
NM_017739.4:c.1650-51_1650-50del (POMGNT1) MANE Select	NP_060209.4:n.1650-51_1650-50del