Canonical Allele Identifier: CA2573132363

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1513369
• ClinVar RCV Id: RCV002018378
• dbSNP Id: rs2148166991

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189912_46190087del , CM000663.2:g.46189912_46190087del	GRCh38
NC_000001.10:g.46655584_46655759del , CM000663.1:g.46655584_46655759del	GRCh37
NC_000001.9:g.46428171_46428346del	NCBI36
NG_009205.2:g.35220_35395del
NG_009205.3:g.35220_35395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-97_1728del (POMGNT1)
ENST00000497439.6:n.1822-97_1900del (POMGNT1)
ENST00000684817.1:n.2010-97_2088del (POMGNT1)
ENST00000684898.1:n.2212-97_2290del (POMGNT1)
ENST00000685230.1:c.*960-97_*1038del (POMGNT1)
ENST00000685275.1:n.2197-97_2275del (POMGNT1)
ENST00000685444.1:c.1551-97_1629del (POMGNT1)
ENST00000685704.1:n.2316-97_2394del (POMGNT1)
ENST00000685833.1:n.4043-97_4121del (POMGNT1)
ENST00000686252.1:n.2724-97_2802del (POMGNT1)
ENST00000686379.1:c.*774-97_*852del (POMGNT1)
ENST00000686724.1:n.3337-97_3415del (POMGNT1)
ENST00000686737.1:c.1650-97_1728del (POMGNT1)
ENST00000687112.1:n.2516-97_2594del (POMGNT1)
ENST00000687149.1:c.1689-97_1767del (POMGNT1)
ENST00000687197.1:c.*590-97_*668del (POMGNT1)
ENST00000687235.1:n.3727-97_3805del (POMGNT1)
ENST00000687613.1:n.2290-97_2368del (POMGNT1)
ENST00000687683.1:c.1650-97_1728del (POMGNT1)
ENST00000688032.1:n.2187-97_2265del (POMGNT1)
ENST00000688596.1:n.2301-97_2379del (POMGNT1)
ENST00000688608.1:c.1551-97_1629del (POMGNT1)
ENST00000689031.1:n.2102-97_2180del (POMGNT1)
ENST00000689756.1:c.*1282-97_*1360del (POMGNT1)
ENST00000690377.1:n.1997-97_2075del (POMGNT1)
ENST00000690678.1:c.1650-97_1728del (POMGNT1)
ENST00000691209.1:c.*590-97_*668del (POMGNT1)
ENST00000691243.1:c.*41-97_*119del (POMGNT1)
ENST00000692202.1:n.2225-97_2303del (POMGNT1)
ENST00000692322.1:c.*1437-97_*1515del (POMGNT1)
ENST00000692369.1:c.1650-97_1728del (POMGNT1)
ENST00000692599.1:n.3525-97_3603del (POMGNT1)
ENST00000692635.1:c.*525-97_*603del (POMGNT1)
ENST00000693168.1:n.3426-97_3504del (POMGNT1)
ENST00000693218.1:c.*211-97_*289del (POMGNT1)
ENST00000693223.1:n.2598-97_2676del (POMGNT1)
ENST00000371984.8:c.1650-97_1728del (POMGNT1)
ENST00000371984.7:c.1650-97_1728del (POMGNT1)
ENST00000371992.1:c.1650-97_1728del (POMGNT1)
ENST00000396420.7:c.*1319-97_*1397del (POMGNT1)
ENST00000480972.1:n.299-97_377del (POMGNT1)
NM_001243766.1:c.1650-97_1728del (POMGNT1)
NM_001290129.1:c.1584-97_1662del (POMGNT1)
NM_001290130.1:c.1221-97_1299del (POMGNT1)
NM_017739.3:c.1650-97_1728del (POMGNT1)
XM_005271010.1:c.1650-97_1728del (POMGNT1)
XM_006710755.1:c.1650-97_1728del (POMGNT1)
XM_006710756.1:c.1650-97_1728del (POMGNT1)
XM_011540460.1:c.678+4604_678+4779del (TSPAN1)	XP_011538762.1:n.678+4604_678+4779del
XM_011540461.1:c.633+4604_633+4779del (TSPAN1)	XP_011538763.1:n.633+4604_633+4779del
XM_011541759.1:c.1584-97_1662del (POMGNT1)
XM_011541760.1:c.1584-97_1662del (POMGNT1)
XM_011541761.1:c.558-97_636del (POMGNT1)
XM_011540460.3:c.678+4604_678+4779del (TSPAN1)	XP_011538762.1:n.678+4604_678+4779del
XM_011541760.3:c.1584-97_1662del (POMGNT1)
XM_017001690.1:c.1650-97_1728del (POMGNT1)
NM_001243766.2:c.1650-97_1728del (POMGNT1)
NM_001290129.2:c.1584-97_1662del (POMGNT1)
NM_001290130.2:c.1221-97_1299del (POMGNT1)
NM_017739.4:c.1650-97_1728del (POMGNT1)