Canonical Allele Identifier: CA2645439366

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190094-GTTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190097_46190101del , CM000663.2:g.46190097_46190101del	GRCh38
NC_000001.10:g.46655769_46655773del , CM000663.1:g.46655769_46655773del	GRCh37
NC_000001.9:g.46428356_46428360del	NCBI36
NG_009205.2:g.35207_35211del
NG_009205.3:g.35207_35211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-110_1650-106del (POMGNT1)	ENSP00000379698.4:n.1650-110_1650-106del
ENST00000497439.6:n.1822-110_1822-106del (POMGNT1)
ENST00000684817.1:n.2010-110_2010-106del (POMGNT1)
ENST00000684898.1:n.2212-110_2212-106del (POMGNT1)
ENST00000685230.1:c.*960-110_*960-106del (POMGNT1)	ENSP00000510305.1:n.*960-110_*960-106del
ENST00000685275.1:n.2197-110_2197-106del (POMGNT1)
ENST00000685444.1:c.1551-110_1551-106del (POMGNT1)	ENSP00000510762.1:n.1551-110_1551-106del
ENST00000685704.1:n.2316-110_2316-106del (POMGNT1)
ENST00000685833.1:n.4043-110_4043-106del (POMGNT1)
ENST00000686252.1:n.2724-110_2724-106del (POMGNT1)
ENST00000686379.1:c.*774-110_*774-106del (POMGNT1)	ENSP00000508913.1:n.*774-110_*774-106del
ENST00000686724.1:n.3337-110_3337-106del (POMGNT1)
ENST00000686737.1:c.1650-110_1650-106del (POMGNT1)	ENSP00000508736.1:n.1650-110_1650-106del
ENST00000687112.1:n.2516-110_2516-106del (POMGNT1)
ENST00000687149.1:c.1689-110_1689-106del (POMGNT1)	ENSP00000509745.1:n.1689-110_1689-106del
ENST00000687197.1:c.*590-110_*590-106del (POMGNT1)	ENSP00000510749.1:n.*590-110_*590-106del
ENST00000687235.1:n.3727-110_3727-106del (POMGNT1)
ENST00000687613.1:n.2290-110_2290-106del (POMGNT1)
ENST00000687683.1:c.1650-110_1650-106del (POMGNT1)	ENSP00000508522.1:n.1650-110_1650-106del
ENST00000688032.1:n.2187-110_2187-106del (POMGNT1)
ENST00000688596.1:n.2301-110_2301-106del (POMGNT1)
ENST00000688608.1:c.1551-110_1551-106del (POMGNT1)	ENSP00000508890.1:n.1551-110_1551-106del
ENST00000689031.1:n.2102-110_2102-106del (POMGNT1)
ENST00000689756.1:c.*1282-110_*1282-106del (POMGNT1)	ENSP00000509023.1:n.*1282-110_*1282-106del
ENST00000690377.1:n.1997-110_1997-106del (POMGNT1)
ENST00000690678.1:c.1650-110_1650-106del (POMGNT1)	ENSP00000508703.1:n.1650-110_1650-106del
ENST00000691209.1:c.*590-110_*590-106del (POMGNT1)	ENSP00000510112.1:n.*590-110_*590-106del
ENST00000691243.1:c.*41-110_*41-106del (POMGNT1)	ENSP00000510654.1:n.*41-110_*41-106del
ENST00000692202.1:n.2225-110_2225-106del (POMGNT1)
ENST00000692322.1:c.*1437-110_*1437-106del (POMGNT1)	ENSP00000509017.1:n.*1437-110_*1437-106del
ENST00000692369.1:c.1650-110_1650-106del (POMGNT1)	ENSP00000508453.1:n.1650-110_1650-106del
ENST00000692599.1:n.3525-110_3525-106del (POMGNT1)
ENST00000692635.1:c.*525-110_*525-106del (POMGNT1)	ENSP00000508425.1:n.*525-110_*525-106del
ENST00000693168.1:n.3426-110_3426-106del (POMGNT1)
ENST00000693218.1:c.*211-110_*211-106del (POMGNT1)	ENSP00000510577.1:n.*211-110_*211-106del
ENST00000693223.1:n.2598-110_2598-106del (POMGNT1)
ENST00000371984.8:c.1650-110_1650-106del (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-110_1650-106del
ENST00000371984.7:c.1650-110_1650-106del (POMGNT1)	ENSP00000361052.3:n.1650-110_1650-106del
ENST00000371992.1:c.1650-110_1650-106del (POMGNT1)	ENSP00000361060.1:n.1650-110_1650-106del
ENST00000396420.7:c.*1319-110_*1319-106del (POMGNT1)	ENSP00000379698.3:n.*1319-110_*1319-106del
ENST00000480972.1:n.299-110_299-106del (POMGNT1)
NM_001243766.1:c.1650-110_1650-106del (POMGNT1)	NP_001230695.1:n.1650-110_1650-106del
NM_001290129.1:c.1584-110_1584-106del (POMGNT1)	NP_001277058.1:n.1584-110_1584-106del
NM_001290130.1:c.1221-110_1221-106del (POMGNT1)	NP_001277059.1:n.1221-110_1221-106del
NM_017739.3:c.1650-110_1650-106del (POMGNT1)	NP_060209.3:n.1650-110_1650-106del
XM_005271010.1:c.1650-110_1650-106del (POMGNT1)	XP_005271067.1:n.1650-110_1650-106del
XM_006710755.1:c.1650-110_1650-106del (POMGNT1)	XP_006710818.1:n.1650-110_1650-106del
XM_006710756.1:c.1650-110_1650-106del (POMGNT1)	XP_006710819.1:n.1650-110_1650-106del
XM_011540460.1:c.678+4789_678+4793del (TSPAN1)	XP_011538762.1:n.678+4789_678+4793del
XM_011540461.1:c.633+4789_633+4793del (TSPAN1)	XP_011538763.1:n.633+4789_633+4793del
XM_011541759.1:c.1584-110_1584-106del (POMGNT1)	XP_011540061.1:n.1584-110_1584-106del
XM_011541760.1:c.1584-110_1584-106del (POMGNT1)	XP_011540062.1:n.1584-110_1584-106del
XM_011541761.1:c.558-110_558-106del (POMGNT1)	XP_011540063.1:n.558-110_558-106del
XM_011540460.3:c.678+4789_678+4793del (TSPAN1)	XP_011538762.1:n.678+4789_678+4793del
XM_011541760.3:c.1584-110_1584-106del (POMGNT1)	XP_011540062.1:n.1584-110_1584-106del
XM_017001690.1:c.1650-110_1650-106del (POMGNT1)	XP_016857179.1:n.1650-110_1650-106del
NM_001243766.2:c.1650-110_1650-106del (POMGNT1)	NP_001230695.2:n.1650-110_1650-106del
NM_001290129.2:c.1584-110_1584-106del (POMGNT1)	NP_001277058.2:n.1584-110_1584-106del
NM_001290130.2:c.1221-110_1221-106del (POMGNT1)	NP_001277059.2:n.1221-110_1221-106del
NM_017739.4:c.1650-110_1650-106del (POMGNT1) MANE Select	NP_060209.4:n.1650-110_1650-106del