Canonical Allele Identifier: CA1001299685

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1657648650
• gnomAD v3: 1-46190163-G-GCCTCCCAA
• gnomAD v4: 1-46190163-G-GCCTCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190164_46190171dup , CM000663.2:g.46190164_46190171dup	GRCh38
NC_000001.10:g.46655836_46655843dup , CM000663.1:g.46655836_46655843dup	GRCh37
NC_000001.9:g.46428423_46428430dup	NCBI36
NG_009205.2:g.35135_35142dup
NG_009205.3:g.35135_35142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-182_1650-175dup (POMGNT1)	ENSP00000379698.4:n.1650-182_1650-175dup
ENST00000497439.6:n.1822-182_1822-175dup (POMGNT1)
ENST00000684817.1:n.2010-182_2010-175dup (POMGNT1)
ENST00000684898.1:n.2212-182_2212-175dup (POMGNT1)
ENST00000685230.1:c.*960-182_*960-175dup (POMGNT1)	ENSP00000510305.1:n.*960-182_*960-175dup
ENST00000685275.1:n.2197-182_2197-175dup (POMGNT1)
ENST00000685444.1:c.1551-182_1551-175dup (POMGNT1)	ENSP00000510762.1:n.1551-182_1551-175dup
ENST00000685704.1:n.2316-182_2316-175dup (POMGNT1)
ENST00000685775.1:n.4993_5000dup (POMGNT1)
ENST00000685833.1:n.4043-182_4043-175dup (POMGNT1)
ENST00000686252.1:n.2724-182_2724-175dup (POMGNT1)
ENST00000686379.1:c.*774-182_*774-175dup (POMGNT1)	ENSP00000508913.1:n.*774-182_*774-175dup
ENST00000686724.1:n.3337-182_3337-175dup (POMGNT1)
ENST00000686737.1:c.1650-182_1650-175dup (POMGNT1)	ENSP00000508736.1:n.1650-182_1650-175dup
ENST00000687112.1:n.2516-182_2516-175dup (POMGNT1)
ENST00000687149.1:c.1689-182_1689-175dup (POMGNT1)	ENSP00000509745.1:n.1689-182_1689-175dup
ENST00000687197.1:c.*590-182_*590-175dup (POMGNT1)	ENSP00000510749.1:n.*590-182_*590-175dup
ENST00000687235.1:n.3727-182_3727-175dup (POMGNT1)
ENST00000687613.1:n.2290-182_2290-175dup (POMGNT1)
ENST00000687683.1:c.1650-182_1650-175dup (POMGNT1)	ENSP00000508522.1:n.1650-182_1650-175dup
ENST00000688032.1:n.2187-182_2187-175dup (POMGNT1)
ENST00000688596.1:n.2301-182_2301-175dup (POMGNT1)
ENST00000688608.1:c.1551-182_1551-175dup (POMGNT1)	ENSP00000508890.1:n.1551-182_1551-175dup
ENST00000688919.1:n.3349_3356dup (POMGNT1)
ENST00000689031.1:n.2102-182_2102-175dup (POMGNT1)
ENST00000689717.1:n.2325_2332dup (POMGNT1)
ENST00000689756.1:c.*1282-182_*1282-175dup (POMGNT1)	ENSP00000509023.1:n.*1282-182_*1282-175dup
ENST00000690377.1:n.1997-182_1997-175dup (POMGNT1)
ENST00000690678.1:c.1650-182_1650-175dup (POMGNT1)	ENSP00000508703.1:n.1650-182_1650-175dup
ENST00000691209.1:c.*590-182_*590-175dup (POMGNT1)	ENSP00000510112.1:n.*590-182_*590-175dup
ENST00000691243.1:c.*41-182_*41-175dup (POMGNT1)	ENSP00000510654.1:n.*41-182_*41-175dup
ENST00000692202.1:n.2225-182_2225-175dup (POMGNT1)
ENST00000692322.1:c.*1437-182_*1437-175dup (POMGNT1)	ENSP00000509017.1:n.*1437-182_*1437-175dup
ENST00000692369.1:c.1650-182_1650-175dup (POMGNT1)	ENSP00000508453.1:n.1650-182_1650-175dup
ENST00000692599.1:n.3525-182_3525-175dup (POMGNT1)
ENST00000692635.1:c.*525-182_*525-175dup (POMGNT1)	ENSP00000508425.1:n.*525-182_*525-175dup
ENST00000693168.1:n.3426-182_3426-175dup (POMGNT1)
ENST00000693218.1:c.*211-182_*211-175dup (POMGNT1)	ENSP00000510577.1:n.*211-182_*211-175dup
ENST00000693223.1:n.2598-182_2598-175dup (POMGNT1)
ENST00000371984.8:c.1650-182_1650-175dup (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-182_1650-175dup
ENST00000371984.7:c.1650-182_1650-175dup (POMGNT1)	ENSP00000361052.3:n.1650-182_1650-175dup
ENST00000371992.1:c.1650-182_1650-175dup (POMGNT1)	ENSP00000361060.1:n.1650-182_1650-175dup
ENST00000396420.7:c.*1319-182_*1319-175dup (POMGNT1)	ENSP00000379698.3:n.*1319-182_*1319-175dup
ENST00000480972.1:n.299-182_299-175dup (POMGNT1)
ENST00000485714.1:n.2852_2859dup (POMGNT1)
NM_001243766.1:c.1650-182_1650-175dup (POMGNT1)	NP_001230695.1:n.1650-182_1650-175dup
NM_001290129.1:c.1584-182_1584-175dup (POMGNT1)	NP_001277058.1:n.1584-182_1584-175dup
NM_001290130.1:c.1221-182_1221-175dup (POMGNT1)	NP_001277059.1:n.1221-182_1221-175dup
NM_017739.3:c.1650-182_1650-175dup (POMGNT1)	NP_060209.3:n.1650-182_1650-175dup
XM_005271010.1:c.1650-182_1650-175dup (POMGNT1)	XP_005271067.1:n.1650-182_1650-175dup
XM_006710755.1:c.1650-182_1650-175dup (POMGNT1)	XP_006710818.1:n.1650-182_1650-175dup
XM_006710756.1:c.1650-182_1650-175dup (POMGNT1)	XP_006710819.1:n.1650-182_1650-175dup
XM_011540460.1:c.678+4856_678+4863dup (TSPAN1)	XP_011538762.1:n.678+4856_678+4863dup
XM_011540461.1:c.633+4856_633+4863dup (TSPAN1)	XP_011538763.1:n.633+4856_633+4863dup
XM_011541759.1:c.1584-182_1584-175dup (POMGNT1)	XP_011540061.1:n.1584-182_1584-175dup
XM_011541760.1:c.1584-182_1584-175dup (POMGNT1)	XP_011540062.1:n.1584-182_1584-175dup
XM_011541761.1:c.558-182_558-175dup (POMGNT1)	XP_011540063.1:n.558-182_558-175dup
XM_011540460.3:c.678+4856_678+4863dup (TSPAN1)	XP_011538762.1:n.678+4856_678+4863dup
XM_011541760.3:c.1584-182_1584-175dup (POMGNT1)	XP_011540062.1:n.1584-182_1584-175dup
XM_017001690.1:c.1650-182_1650-175dup (POMGNT1)	XP_016857179.1:n.1650-182_1650-175dup
NM_001243766.2:c.1650-182_1650-175dup (POMGNT1)	NP_001230695.2:n.1650-182_1650-175dup
NM_001290129.2:c.1584-182_1584-175dup (POMGNT1)	NP_001277058.2:n.1584-182_1584-175dup
NM_001290130.2:c.1221-182_1221-175dup (POMGNT1)	NP_001277059.2:n.1221-182_1221-175dup
NM_017739.4:c.1650-182_1650-175dup (POMGNT1) MANE Select	NP_060209.4:n.1650-182_1650-175dup