Canonical Allele Identifier: CA2474082035

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192095_46192099delinsCACGT , CM000663.2:g.46192095_46192099delinsCACGT	GRCh38
NC_000001.10:g.46657767_46657771delinsCACGT , CM000663.1:g.46657767_46657771delinsCACGT	GRCh37
NC_000001.9:g.46430354_46430358delinsCACGT	NCBI36
NG_009205.2:g.33207_33211delinsACGTG
NG_009205.3:g.33207_33211delinsACGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000477114.2:n.2100_2101+3delinsACGTG (POMGNT1)
ENST00000497439.6:n.1710_1711+3delinsACGTG (POMGNT1)
ENST00000684817.1:n.1898_1899+3delinsACGTG (POMGNT1)
ENST00000684898.1:n.2100_2101+3delinsACGTG (POMGNT1)
ENST00000685230.1:c.*848_*849+3delinsACGTG (POMGNT1)
ENST00000685275.1:n.2085_2086+3delinsACGTG (POMGNT1)
ENST00000685444.1:c.1439_1440+3delinsACGTG (POMGNT1)
ENST00000685704.1:n.2100_2101+3delinsACGTG (POMGNT1)
ENST00000685775.1:n.3065_3069delinsACGTG (POMGNT1)
ENST00000685833.1:n.2416_2420delinsACGTG (POMGNT1)
ENST00000686252.1:n.2612_2613+3delinsACGTG (POMGNT1)
ENST00000686379.1:c.*662_*663+3delinsACGTG (POMGNT1)
ENST00000686724.1:n.1710_1714delinsACGTG (POMGNT1)
ENST00000686737.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000687112.1:n.2404_2405+3delinsACGTG (POMGNT1)
ENST00000687149.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000687197.1:c.*478_*479+3delinsACGTG (POMGNT1)
ENST00000687235.1:n.2100_2104delinsACGTG (POMGNT1)
ENST00000687613.1:n.2288_2289+3delinsACGTG (POMGNT1)
ENST00000687683.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000688032.1:n.2100_2101+3delinsACGTG (POMGNT1)
ENST00000688596.1:n.2189_2190+3delinsACGTG (POMGNT1)
ENST00000688608.1:c.1439_1440+3delinsACGTG (POMGNT1)
ENST00000688919.1:n.2734_2735+3delinsACGTG (POMGNT1)
ENST00000689031.1:n.2100_2101+3delinsACGTG (POMGNT1)
ENST00000689717.1:n.1710_1711+3delinsACGTG (POMGNT1)
ENST00000689756.1:c.*1170_*1171+3delinsACGTG (POMGNT1)
ENST00000690377.1:n.1885_1886+3delinsACGTG (POMGNT1)
ENST00000690678.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000691209.1:c.*478_*479+3delinsACGTG (POMGNT1)
ENST00000691243.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000692169.1:n.1687_1691delinsACGTG (POMGNT1)
ENST00000692202.1:n.2113_2114+3delinsACGTG (POMGNT1)
ENST00000692322.1:c.*1390_*1391+3delinsACGTG (POMGNT1)
ENST00000692369.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000692599.1:n.2100_2104delinsACGTG (POMGNT1)
ENST00000692635.1:c.*478_*479+3delinsACGTG (POMGNT1)
ENST00000693168.1:n.1799_1803delinsACGTG (POMGNT1)
ENST00000693218.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000693223.1:n.2486_2487+3delinsACGTG (POMGNT1)
ENST00000693365.1:n.4172_4176delinsACGTG (POMGNT1)
ENST00000371984.8:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000371984.7:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000371992.1:c.1538_1539+3delinsACGTG (POMGNT1)
ENST00000396420.7:c.*1207_*1208+3delinsACGTG (POMGNT1)
ENST00000463030.1:n.159_163delinsACGTG (POMGNT1)
ENST00000485714.1:n.924_928delinsACGTG (POMGNT1)
NM_001243766.1:c.1538_1539+3delinsACGTG (POMGNT1)
NM_001290129.1:c.1472_1473+3delinsACGTG (POMGNT1)
NM_001290130.1:c.1109_1110+3delinsACGTG (POMGNT1)
NM_017739.3:c.1538_1539+3delinsACGTG (POMGNT1)
XM_005271010.1:c.1538_1539+3delinsACGTG (POMGNT1)
XM_006710755.1:c.1538_1539+3delinsACGTG (POMGNT1)
XM_006710756.1:c.1538_1539+3delinsACGTG (POMGNT1)
XM_011540460.1:c.679-4107_679-4103delinsCACGT (TSPAN1)	XP_011538762.1:n.679-4107_679-4103delinsC...
XM_011540461.1:c.634-4107_634-4103delinsCACGT (TSPAN1)	XP_011538763.1:n.634-4107_634-4103delinsC...
XM_011541759.1:c.1472_1473+3delinsACGTG (POMGNT1)
XM_011541760.1:c.1472_1473+3delinsACGTG (POMGNT1)
XM_011541761.1:c.446_447+3delinsACGTG (POMGNT1)
XM_011540460.3:c.679-4107_679-4103delinsCACGT (TSPAN1)	XP_011538762.1:n.679-4107_679-4103delinsC...
XM_011541760.3:c.1472_1473+3delinsACGTG (POMGNT1)
XM_017001690.1:c.1538_1539+3delinsACGTG (POMGNT1)
NM_001243766.2:c.1538_1539+3delinsACGTG (POMGNT1)
NM_001290129.2:c.1472_1473+3delinsACGTG (POMGNT1)
NM_001290130.2:c.1109_1110+3delinsACGTG (POMGNT1)
NM_017739.4:c.1538_1539+3delinsACGTG (POMGNT1)