Canonical Allele Identifier: CA736240394

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1201448091
• gnomAD v4: 1-46190174-AGCTGGGACTACAGGCGCCT-A
• MyVariant Identifiers: chr1:g.46655847_46655865del (hg19) ; chr1:g.46190175_46190193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190177_46190195del , CM000663.2:g.46190177_46190195del	GRCh38
NC_000001.10:g.46655849_46655867del , CM000663.1:g.46655849_46655867del	GRCh37
NC_000001.9:g.46428436_46428454del	NCBI36
NG_009205.2:g.35113_35131del
NG_009205.3:g.35113_35131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-204_1650-186del (POMGNT1)	ENSP00000379698.4:n.1650-204_1650-186del
ENST00000497439.6:n.1822-204_1822-186del (POMGNT1)
ENST00000684817.1:n.2010-204_2010-186del (POMGNT1)
ENST00000684898.1:n.2212-204_2212-186del (POMGNT1)
ENST00000685230.1:c.*960-204_*960-186del (POMGNT1)	ENSP00000510305.1:n.*960-204_*960-186del
ENST00000685275.1:n.2197-204_2197-186del (POMGNT1)
ENST00000685444.1:c.1551-204_1551-186del (POMGNT1)	ENSP00000510762.1:n.1551-204_1551-186del
ENST00000685704.1:n.2316-204_2316-186del (POMGNT1)
ENST00000685775.1:n.4971_4989del (POMGNT1)
ENST00000685833.1:n.4043-204_4043-186del (POMGNT1)
ENST00000686252.1:n.2724-204_2724-186del (POMGNT1)
ENST00000686379.1:c.*774-204_*774-186del (POMGNT1)	ENSP00000508913.1:n.*774-204_*774-186del
ENST00000686724.1:n.3337-204_3337-186del (POMGNT1)
ENST00000686737.1:c.1650-204_1650-186del (POMGNT1)	ENSP00000508736.1:n.1650-204_1650-186del
ENST00000687112.1:n.2516-204_2516-186del (POMGNT1)
ENST00000687149.1:c.1689-204_1689-186del (POMGNT1)	ENSP00000509745.1:n.1689-204_1689-186del
ENST00000687197.1:c.*590-204_*590-186del (POMGNT1)	ENSP00000510749.1:n.*590-204_*590-186del
ENST00000687235.1:n.3727-204_3727-186del (POMGNT1)
ENST00000687613.1:n.2290-204_2290-186del (POMGNT1)
ENST00000687683.1:c.1650-204_1650-186del (POMGNT1)	ENSP00000508522.1:n.1650-204_1650-186del
ENST00000688032.1:n.2187-204_2187-186del (POMGNT1)
ENST00000688596.1:n.2301-204_2301-186del (POMGNT1)
ENST00000688608.1:c.1551-204_1551-186del (POMGNT1)	ENSP00000508890.1:n.1551-204_1551-186del
ENST00000688919.1:n.3327_3345del (POMGNT1)
ENST00000689031.1:n.2102-204_2102-186del (POMGNT1)
ENST00000689717.1:n.2303_2321del (POMGNT1)
ENST00000689756.1:c.*1282-204_*1282-186del (POMGNT1)	ENSP00000509023.1:n.*1282-204_*1282-186del
ENST00000690377.1:n.1997-204_1997-186del (POMGNT1)
ENST00000690678.1:c.1650-204_1650-186del (POMGNT1)	ENSP00000508703.1:n.1650-204_1650-186del
ENST00000691209.1:c.*590-204_*590-186del (POMGNT1)	ENSP00000510112.1:n.*590-204_*590-186del
ENST00000691243.1:c.*41-204_*41-186del (POMGNT1)	ENSP00000510654.1:n.*41-204_*41-186del
ENST00000692202.1:n.2225-204_2225-186del (POMGNT1)
ENST00000692322.1:c.*1437-204_*1437-186del (POMGNT1)	ENSP00000509017.1:n.*1437-204_*1437-186del
ENST00000692369.1:c.1650-204_1650-186del (POMGNT1)	ENSP00000508453.1:n.1650-204_1650-186del
ENST00000692599.1:n.3525-204_3525-186del (POMGNT1)
ENST00000692635.1:c.*525-204_*525-186del (POMGNT1)	ENSP00000508425.1:n.*525-204_*525-186del
ENST00000693168.1:n.3426-204_3426-186del (POMGNT1)
ENST00000693218.1:c.*211-204_*211-186del (POMGNT1)	ENSP00000510577.1:n.*211-204_*211-186del
ENST00000693223.1:n.2598-204_2598-186del (POMGNT1)
ENST00000371984.8:c.1650-204_1650-186del (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-204_1650-186del
ENST00000371984.7:c.1650-204_1650-186del (POMGNT1)	ENSP00000361052.3:n.1650-204_1650-186del
ENST00000371992.1:c.1650-204_1650-186del (POMGNT1)	ENSP00000361060.1:n.1650-204_1650-186del
ENST00000396420.7:c.*1319-204_*1319-186del (POMGNT1)	ENSP00000379698.3:n.*1319-204_*1319-186del
ENST00000480972.1:n.299-204_299-186del (POMGNT1)
ENST00000485714.1:n.2830_2848del (POMGNT1)
NM_001243766.1:c.1650-204_1650-186del (POMGNT1)	NP_001230695.1:n.1650-204_1650-186del
NM_001290129.1:c.1584-204_1584-186del (POMGNT1)	NP_001277058.1:n.1584-204_1584-186del
NM_001290130.1:c.1221-204_1221-186del (POMGNT1)	NP_001277059.1:n.1221-204_1221-186del
NM_017739.3:c.1650-204_1650-186del (POMGNT1)	NP_060209.3:n.1650-204_1650-186del
XM_005271010.1:c.1650-204_1650-186del (POMGNT1)	XP_005271067.1:n.1650-204_1650-186del
XM_006710755.1:c.1650-204_1650-186del (POMGNT1)	XP_006710818.1:n.1650-204_1650-186del
XM_006710756.1:c.1650-204_1650-186del (POMGNT1)	XP_006710819.1:n.1650-204_1650-186del
XM_011540460.1:c.678+4869_678+4887del (TSPAN1)	XP_011538762.1:n.678+4869_678+4887del
XM_011540461.1:c.633+4869_633+4887del (TSPAN1)	XP_011538763.1:n.633+4869_633+4887del
XM_011541759.1:c.1584-204_1584-186del (POMGNT1)	XP_011540061.1:n.1584-204_1584-186del
XM_011541760.1:c.1584-204_1584-186del (POMGNT1)	XP_011540062.1:n.1584-204_1584-186del
XM_011541761.1:c.558-204_558-186del (POMGNT1)	XP_011540063.1:n.558-204_558-186del
XM_011540460.3:c.678+4869_678+4887del (TSPAN1)	XP_011538762.1:n.678+4869_678+4887del
XM_011541760.3:c.1584-204_1584-186del (POMGNT1)	XP_011540062.1:n.1584-204_1584-186del
XM_017001690.1:c.1650-204_1650-186del (POMGNT1)	XP_016857179.1:n.1650-204_1650-186del
NM_001243766.2:c.1650-204_1650-186del (POMGNT1)	NP_001230695.2:n.1650-204_1650-186del
NM_001290129.2:c.1584-204_1584-186del (POMGNT1)	NP_001277058.2:n.1584-204_1584-186del
NM_001290130.2:c.1221-204_1221-186del (POMGNT1)	NP_001277059.2:n.1221-204_1221-186del
NM_017739.4:c.1650-204_1650-186del (POMGNT1) MANE Select	NP_060209.4:n.1650-204_1650-186del