Canonical Allele Identifier: CA2474081293

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190217_46190218delinsTG , CM000663.2:g.46190217_46190218delinsTG	GRCh38
NC_000001.10:g.46655889_46655890delinsTG , CM000663.1:g.46655889_46655890delinsTG	GRCh37
NC_000001.9:g.46428476_46428477delinsTG	NCBI36
NG_009205.2:g.35088_35089delinsCA
NG_009205.3:g.35088_35089delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000379698.4:n.1650-229_1650-228delinsCA
ENST00000497439.6:n.1822-229_1822-228delinsCA (POMGNT1)
ENST00000684817.1:n.2010-229_2010-228delinsCA (POMGNT1)
ENST00000684898.1:n.2212-229_2212-228delinsCA (POMGNT1)
ENST00000685230.1:c.*960-229_*960-228delinsCA (POMGNT1)	ENSP00000510305.1:n.*960-229_*960-228delinsCA
ENST00000685275.1:n.2197-229_2197-228delinsCA (POMGNT1)
ENST00000685444.1:c.1551-229_1551-228delinsCA (POMGNT1)	ENSP00000510762.1:n.1551-229_1551-228delinsCA
ENST00000685704.1:n.2316-229_2316-228delinsCA (POMGNT1)
ENST00000685775.1:n.4946_4947delinsCA (POMGNT1)
ENST00000685833.1:n.4043-229_4043-228delinsCA (POMGNT1)
ENST00000686252.1:n.2724-229_2724-228delinsCA (POMGNT1)
ENST00000686379.1:c.*774-229_*774-228delinsCA (POMGNT1)	ENSP00000508913.1:n.*774-229_*774-228delinsCA
ENST00000686724.1:n.3337-229_3337-228delinsCA (POMGNT1)
ENST00000686737.1:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000508736.1:n.1650-229_1650-228delinsCA
ENST00000687112.1:n.2516-229_2516-228delinsCA (POMGNT1)
ENST00000687149.1:c.1689-229_1689-228delinsCA (POMGNT1)	ENSP00000509745.1:n.1689-229_1689-228delinsCA
ENST00000687197.1:c.*590-229_*590-228delinsCA (POMGNT1)	ENSP00000510749.1:n.*590-229_*590-228delinsCA
ENST00000687235.1:n.3727-229_3727-228delinsCA (POMGNT1)
ENST00000687613.1:n.2290-229_2290-228delinsCA (POMGNT1)
ENST00000687683.1:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000508522.1:n.1650-229_1650-228delinsCA
ENST00000688032.1:n.2187-229_2187-228delinsCA (POMGNT1)
ENST00000688596.1:n.2301-229_2301-228delinsCA (POMGNT1)
ENST00000688608.1:c.1551-229_1551-228delinsCA (POMGNT1)	ENSP00000508890.1:n.1551-229_1551-228delinsCA
ENST00000688919.1:n.3302_3303delinsCA (POMGNT1)
ENST00000689031.1:n.2102-229_2102-228delinsCA (POMGNT1)
ENST00000689717.1:n.2278_2279delinsCA (POMGNT1)
ENST00000689756.1:c.*1282-229_*1282-228delinsCA (POMGNT1)	ENSP00000509023.1:n.*1282-229_*1282-228delinsCA
ENST00000690377.1:n.1997-229_1997-228delinsCA (POMGNT1)
ENST00000690678.1:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000508703.1:n.1650-229_1650-228delinsCA
ENST00000691209.1:c.*590-229_*590-228delinsCA (POMGNT1)	ENSP00000510112.1:n.*590-229_*590-228delinsCA
ENST00000691243.1:c.*41-229_*41-228delinsCA (POMGNT1)	ENSP00000510654.1:n.*41-229_*41-228delinsCA
ENST00000692169.1:n.3568_3569delinsCA (POMGNT1)
ENST00000692202.1:n.2225-229_2225-228delinsCA (POMGNT1)
ENST00000692322.1:c.*1437-229_*1437-228delinsCA (POMGNT1)	ENSP00000509017.1:n.*1437-229_*1437-228delinsCA
ENST00000692369.1:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000508453.1:n.1650-229_1650-228delinsCA
ENST00000692599.1:n.3525-229_3525-228delinsCA (POMGNT1)
ENST00000692635.1:c.*525-229_*525-228delinsCA (POMGNT1)	ENSP00000508425.1:n.*525-229_*525-228delinsCA
ENST00000693168.1:n.3426-229_3426-228delinsCA (POMGNT1)
ENST00000693218.1:c.*211-229_*211-228delinsCA (POMGNT1)	ENSP00000510577.1:n.*211-229_*211-228delinsCA
ENST00000693223.1:n.2598-229_2598-228delinsCA (POMGNT1)
ENST00000371984.8:c.1650-229_1650-228delinsCA (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-229_1650-228delinsCA
ENST00000371984.7:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000361052.3:n.1650-229_1650-228delinsCA
ENST00000371992.1:c.1650-229_1650-228delinsCA (POMGNT1)	ENSP00000361060.1:n.1650-229_1650-228delinsCA
ENST00000396420.7:c.*1319-229_*1319-228delinsCA (POMGNT1)	ENSP00000379698.3:n.*1319-229_*1319-228delinsCA
ENST00000480972.1:n.299-229_299-228delinsCA (POMGNT1)
ENST00000485714.1:n.2805_2806delinsCA (POMGNT1)
NM_001243766.1:c.1650-229_1650-228delinsCA (POMGNT1)	NP_001230695.1:n.1650-229_1650-228delinsCA
NM_001290129.1:c.1584-229_1584-228delinsCA (POMGNT1)	NP_001277058.1:n.1584-229_1584-228delinsCA
NM_001290130.1:c.1221-229_1221-228delinsCA (POMGNT1)	NP_001277059.1:n.1221-229_1221-228delinsCA
NM_017739.3:c.1650-229_1650-228delinsCA (POMGNT1)	NP_060209.3:n.1650-229_1650-228delinsCA
XM_005271010.1:c.1650-229_1650-228delinsCA (POMGNT1)	XP_005271067.1:n.1650-229_1650-228delinsCA
XM_006710755.1:c.1650-229_1650-228delinsCA (POMGNT1)	XP_006710818.1:n.1650-229_1650-228delinsCA
XM_006710756.1:c.1650-229_1650-228delinsCA (POMGNT1)	XP_006710819.1:n.1650-229_1650-228delinsCA
XM_011540460.1:c.678+4909_678+4910delinsTG (TSPAN1)	XP_011538762.1:n.678+4909_678+4910delinsTG
XM_011540461.1:c.633+4909_633+4910delinsTG (TSPAN1)	XP_011538763.1:n.633+4909_633+4910delinsTG
XM_011541759.1:c.1584-229_1584-228delinsCA (POMGNT1)	XP_011540061.1:n.1584-229_1584-228delinsCA
XM_011541760.1:c.1584-229_1584-228delinsCA (POMGNT1)	XP_011540062.1:n.1584-229_1584-228delinsCA
XM_011541761.1:c.558-229_558-228delinsCA (POMGNT1)	XP_011540063.1:n.558-229_558-228delinsCA
XM_011540460.3:c.678+4909_678+4910delinsTG (TSPAN1)	XP_011538762.1:n.678+4909_678+4910delinsTG
XM_011541760.3:c.1584-229_1584-228delinsCA (POMGNT1)	XP_011540062.1:n.1584-229_1584-228delinsCA
XM_017001690.1:c.1650-229_1650-228delinsCA (POMGNT1)	XP_016857179.1:n.1650-229_1650-228delinsCA
NM_001243766.2:c.1650-229_1650-228delinsCA (POMGNT1)	NP_001230695.2:n.1650-229_1650-228delinsCA
NM_001290129.2:c.1584-229_1584-228delinsCA (POMGNT1)	NP_001277058.2:n.1584-229_1584-228delinsCA
NM_001290130.2:c.1221-229_1221-228delinsCA (POMGNT1)	NP_001277059.2:n.1221-229_1221-228delinsCA
NM_017739.4:c.1650-229_1650-228delinsCA (POMGNT1) MANE Select	NP_060209.4:n.1650-229_1650-228delinsCA