Canonical Allele Identifier: CA2645439390

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190097-C-CTTTTTTTTTTTTTTTTTTTTTTGTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190116_46190117insTTTGTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.46190116_46190117insTTTGTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000001.10:g.46655788_46655789insTTTGTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.46655788_46655789insTTTGTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000001.9:g.46428375_46428376insTTTGTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009205.2:g.35208_35209insAAAAACAAAAAAAAAAAAAAAAAAAAAA
NG_009205.3:g.35208_35209insAAAAACAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000379698.4:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000497439.6:n.1822-109_1822-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000684817.1:n.2010-109_2010-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000684898.1:n.2212-109_2212-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000685230.1:c.*960-109_*960-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510305.1:n.*960-109_*960-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000685275.1:n.2197-109_2197-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000685444.1:c.1551-109_1551-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510762.1:n.1551-109_1551-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000685704.1:n.2316-109_2316-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000685833.1:n.4043-109_4043-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000686252.1:n.2724-109_2724-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000686379.1:c.*774-109_*774-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508913.1:n.*774-109_*774-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000686724.1:n.3337-109_3337-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000686737.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508736.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000687112.1:n.2516-109_2516-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000687149.1:c.1689-109_1689-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000509745.1:n.1689-109_1689-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000687197.1:c.*590-109_*590-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510749.1:n.*590-109_*590-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000687235.1:n.3727-109_3727-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000687613.1:n.2290-109_2290-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000687683.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508522.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000688032.1:n.2187-109_2187-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000688596.1:n.2301-109_2301-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000688608.1:c.1551-109_1551-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508890.1:n.1551-109_1551-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000689031.1:n.2102-109_2102-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000689756.1:c.*1282-109_*1282-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000509023.1:n.*1282-109_*1282-108insAAAAACAAAAAAAAAAAAA...
ENST00000690377.1:n.1997-109_1997-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000690678.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508703.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000691209.1:c.*590-109_*590-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510112.1:n.*590-109_*590-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000691243.1:c.*41-109_*41-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510654.1:n.*41-109_*41-108insAAAAACAAAAAAAAAAAAAAAAA...
ENST00000692202.1:n.2225-109_2225-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000692322.1:c.*1437-109_*1437-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000509017.1:n.*1437-109_*1437-108insAAAAACAAAAAAAAAAAAA...
ENST00000692369.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508453.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000692599.1:n.3525-109_3525-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000692635.1:c.*525-109_*525-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000508425.1:n.*525-109_*525-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000693168.1:n.3426-109_3426-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000693218.1:c.*211-109_*211-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000510577.1:n.*211-109_*211-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000693223.1:n.2598-109_2598-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
ENST00000371984.8:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000371984.7:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000361052.3:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000371992.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000361060.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAA...
ENST00000396420.7:c.*1319-109_*1319-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	ENSP00000379698.3:n.*1319-109_*1319-108insAAAAACAAAAAAAAAAAAA...
ENST00000480972.1:n.299-109_299-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)
NM_001243766.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001230695.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_001290129.1:c.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001277058.1:n.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_001290130.1:c.1221-109_1221-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001277059.1:n.1221-109_1221-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_017739.3:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_060209.3:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAA...
XM_005271010.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_005271067.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_006710755.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_006710818.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_006710756.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_006710819.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_011540460.1:c.678+4808_678+4809insTTTGTTTTTTTTTTTTTTTTTTTTTTTT (TSPAN1)	XP_011538762.1:n.678+4808_678+4809insTTTGTTTTTTTTTTTTTTTTTTTT...
XM_011540461.1:c.633+4808_633+4809insTTTGTTTTTTTTTTTTTTTTTTTTTTTT (TSPAN1)	XP_011538763.1:n.633+4808_633+4809insTTTGTTTTTTTTTTTTTTTTTTTT...
XM_011541759.1:c.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_011540061.1:n.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_011541760.1:c.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_011540062.1:n.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_011541761.1:c.558-109_558-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_011540063.1:n.558-109_558-108insAAAAACAAAAAAAAAAAAAAAAAAAA...
XM_011540460.3:c.678+4808_678+4809insTTTGTTTTTTTTTTTTTTTTTTTTTTTT (TSPAN1)	XP_011538762.1:n.678+4808_678+4809insTTTGTTTTTTTTTTTTTTTTTTTT...
XM_011541760.3:c.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_011540062.1:n.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAA...
XM_017001690.1:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	XP_016857179.1:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_001243766.2:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001230695.2:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_001290129.2:c.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001277058.2:n.1584-109_1584-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_001290130.2:c.1221-109_1221-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1)	NP_001277059.2:n.1221-109_1221-108insAAAAACAAAAAAAAAAAAAAAAAA...
NM_017739.4:c.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAAA (POMGNT1) MANE Select	NP_060209.4:n.1650-109_1650-108insAAAAACAAAAAAAAAAAAAAAAAAAAA...