Canonical Allele Identifier: CA2474082020

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192055_46192059delinsACTGT , CM000663.2:g.46192055_46192059delinsACTGT	GRCh38
NC_000001.10:g.46657727_46657731delinsACTGT , CM000663.1:g.46657727_46657731delinsACTGT	GRCh37
NC_000001.9:g.46430314_46430318delinsACTGT	NCBI36
NG_009205.2:g.33247_33251delinsACAGT
NG_009205.3:g.33247_33251delinsACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000379698.4:n.1539+39_1539+43delinsACAGT
ENST00000477114.2:n.2101+39_2101+43delinsACAGT (POMGNT1)
ENST00000497439.6:n.1711+39_1711+43delinsACAGT (POMGNT1)
ENST00000684817.1:n.1899+39_1899+43delinsACAGT (POMGNT1)
ENST00000684898.1:n.2101+39_2101+43delinsACAGT (POMGNT1)
ENST00000685230.1:c.*849+39_*849+43delinsACAGT (POMGNT1)	ENSP00000510305.1:n.*849+39_*849+43delinsACAGT
ENST00000685275.1:n.2086+39_2086+43delinsACAGT (POMGNT1)
ENST00000685444.1:c.1440+39_1440+43delinsACAGT (POMGNT1)	ENSP00000510762.1:n.1440+39_1440+43delinsACAGT
ENST00000685704.1:n.2101+39_2101+43delinsACAGT (POMGNT1)
ENST00000685775.1:n.3105_3109delinsACAGT (POMGNT1)
ENST00000685833.1:n.2456_2460delinsACAGT (POMGNT1)
ENST00000686252.1:n.2613+39_2613+43delinsACAGT (POMGNT1)
ENST00000686379.1:c.*663+39_*663+43delinsACAGT (POMGNT1)	ENSP00000508913.1:n.*663+39_*663+43delinsACAGT
ENST00000686724.1:n.1750_1754delinsACAGT (POMGNT1)
ENST00000686737.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000508736.1:n.1539+39_1539+43delinsACAGT
ENST00000687112.1:n.2405+39_2405+43delinsACAGT (POMGNT1)
ENST00000687149.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000509745.1:n.1539+39_1539+43delinsACAGT
ENST00000687197.1:c.*479+39_*479+43delinsACAGT (POMGNT1)	ENSP00000510749.1:n.*479+39_*479+43delinsACAGT
ENST00000687235.1:n.2140_2144delinsACAGT (POMGNT1)
ENST00000687613.1:n.2289+39_2289+43delinsACAGT (POMGNT1)
ENST00000687683.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000508522.1:n.1539+39_1539+43delinsACAGT
ENST00000688032.1:n.2101+39_2101+43delinsACAGT (POMGNT1)
ENST00000688596.1:n.2190+39_2190+43delinsACAGT (POMGNT1)
ENST00000688608.1:c.1440+39_1440+43delinsACAGT (POMGNT1)	ENSP00000508890.1:n.1440+39_1440+43delinsACAGT
ENST00000688919.1:n.2735+39_2735+43delinsACAGT (POMGNT1)
ENST00000689031.1:n.2101+39_2101+43delinsACAGT (POMGNT1)
ENST00000689717.1:n.1711+39_1711+43delinsACAGT (POMGNT1)
ENST00000689756.1:c.*1171+39_*1171+43delinsACAGT (POMGNT1)	ENSP00000509023.1:n.*1171+39_*1171+43delinsACAGT
ENST00000690377.1:n.1886+39_1886+43delinsACAGT (POMGNT1)
ENST00000690678.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000508703.1:n.1539+39_1539+43delinsACAGT
ENST00000691209.1:c.*479+39_*479+43delinsACAGT (POMGNT1)	ENSP00000510112.1:n.*479+39_*479+43delinsACAGT
ENST00000691243.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000510654.1:n.1539+39_1539+43delinsACAGT
ENST00000692169.1:n.1727_1731delinsACAGT (POMGNT1)
ENST00000692202.1:n.2114+39_2114+43delinsACAGT (POMGNT1)
ENST00000692322.1:c.*1391+39_*1391+43delinsACAGT (POMGNT1)	ENSP00000509017.1:n.*1391+39_*1391+43delinsACAGT
ENST00000692369.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000508453.1:n.1539+39_1539+43delinsACAGT
ENST00000692599.1:n.2140_2144delinsACAGT (POMGNT1)
ENST00000692635.1:c.*479+39_*479+43delinsACAGT (POMGNT1)	ENSP00000508425.1:n.*479+39_*479+43delinsACAGT
ENST00000693168.1:n.1839_1843delinsACAGT (POMGNT1)
ENST00000693218.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000510577.1:n.1539+39_1539+43delinsACAGT
ENST00000693223.1:n.2487+39_2487+43delinsACAGT (POMGNT1)
ENST00000693365.1:n.4212_4216delinsACAGT (POMGNT1)
ENST00000371984.8:c.1539+39_1539+43delinsACAGT (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+39_1539+43delinsACAGT
ENST00000371984.7:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000361052.3:n.1539+39_1539+43delinsACAGT
ENST00000371992.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	ENSP00000361060.1:n.1539+39_1539+43delinsACAGT
ENST00000396420.7:c.*1208+39_*1208+43delinsACAGT (POMGNT1)	ENSP00000379698.3:n.*1208+39_*1208+43delinsACAGT
ENST00000463030.1:n.199_203delinsACAGT (POMGNT1)
ENST00000485714.1:n.964_968delinsACAGT (POMGNT1)
NM_001243766.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	NP_001230695.1:n.1539+39_1539+43delinsACAGT
NM_001290129.1:c.1473+39_1473+43delinsACAGT (POMGNT1)	NP_001277058.1:n.1473+39_1473+43delinsACAGT
NM_001290130.1:c.1110+39_1110+43delinsACAGT (POMGNT1)	NP_001277059.1:n.1110+39_1110+43delinsACAGT
NM_017739.3:c.1539+39_1539+43delinsACAGT (POMGNT1)	NP_060209.3:n.1539+39_1539+43delinsACAGT
XM_005271010.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	XP_005271067.1:n.1539+39_1539+43delinsACAGT
XM_006710755.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	XP_006710818.1:n.1539+39_1539+43delinsACAGT
XM_006710756.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	XP_006710819.1:n.1539+39_1539+43delinsACAGT
XM_011540460.1:c.679-4147_679-4143delinsACTGT (TSPAN1)	XP_011538762.1:n.679-4147_679-4143delinsACTGT
XM_011540461.1:c.634-4147_634-4143delinsACTGT (TSPAN1)	XP_011538763.1:n.634-4147_634-4143delinsACTGT
XM_011541759.1:c.1473+39_1473+43delinsACAGT (POMGNT1)	XP_011540061.1:n.1473+39_1473+43delinsACAGT
XM_011541760.1:c.1473+39_1473+43delinsACAGT (POMGNT1)	XP_011540062.1:n.1473+39_1473+43delinsACAGT
XM_011541761.1:c.447+39_447+43delinsACAGT (POMGNT1)	XP_011540063.1:n.447+39_447+43delinsACAGT
XM_011540460.3:c.679-4147_679-4143delinsACTGT (TSPAN1)	XP_011538762.1:n.679-4147_679-4143delinsACTGT
XM_011541760.3:c.1473+39_1473+43delinsACAGT (POMGNT1)	XP_011540062.1:n.1473+39_1473+43delinsACAGT
XM_017001690.1:c.1539+39_1539+43delinsACAGT (POMGNT1)	XP_016857179.1:n.1539+39_1539+43delinsACAGT
NM_001243766.2:c.1539+39_1539+43delinsACAGT (POMGNT1)	NP_001230695.2:n.1539+39_1539+43delinsACAGT
NM_001290129.2:c.1473+39_1473+43delinsACAGT (POMGNT1)	NP_001277058.2:n.1473+39_1473+43delinsACAGT
NM_001290130.2:c.1110+39_1110+43delinsACAGT (POMGNT1)	NP_001277059.2:n.1110+39_1110+43delinsACAGT
NM_017739.4:c.1539+39_1539+43delinsACAGT (POMGNT1) MANE Select	NP_060209.4:n.1539+39_1539+43delinsACAGT