Canonical Allele Identifier: CA573761167
Community Standard Title: NM_001002010.5(NT5C3A):c.582_584del (p.Phe195del)
Gene: NT5C3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33017549_33017551del , CM000669.2:g.33017549_33017551del GRCh38
NC_000007.13:g.33057161_33057163del , CM000669.1:g.33057161_33057163del GRCh37
NC_000007.12:g.33023686_33023688del NCBI36
NG_015800.1:g.50248_50250del

Transcript Alleles

HGVS Amino-acid Change
NM_001002010.5:c.582_584del MANE Select NP_001002010.2:p.Phe195del
ENST00000610140.7:c.582_584del MANE Select ENSP00000476480.2:p.Phe195del
NM_001002009.2:c.480_482del NP_001002009.1:p.Phe161del
NM_001002009.3:c.480_482del NP_001002009.1:p.Phe161del
NM_001002010.2:c.597_599del NP_001002010.1:p.Phe200del
NM_001002010.3:c.582_584del NP_001002010.2:p.Phe195del
NM_001166118.2:c.444_446del NP_001159590.1:p.Phe149del
NM_001166118.3:c.444_446del NP_001159590.1:p.Phe149del
NM_001356996.1:c.444_446del NP_001343925.1:p.Phe149del
NM_001356996.2:c.444_446del NP_001343925.1:p.Phe149del
NM_001356996.3:c.444_446del NP_001343925.1:p.Phe149del
NM_001374335.1:c.483_485del NP_001361264.1:p.Phe162del
NM_001374336.1:c.444_446del NP_001361265.1:p.Phe149del
NM_001374337.1:c.444_446del NP_001361266.1:p.Phe149del
NM_001374338.1:c.582_584del NP_001361267.1:p.Phe195del
NM_001374339.1:c.381_383del NP_001361268.1:p.Phe128del
NM_016489.12:c.480_482del NP_057573.2:p.Phe161del
NM_016489.13:c.480_482del NP_057573.2:p.Phe161del
NM_016489.14:c.480_482del NP_057573.2:p.Phe161del
ENST00000242210.11:c.597_599del ENSP00000242210.7:p.Phe200del
ENST00000381626.6:c.444_446del ENSP00000371039.2:p.Phe149del
ENST00000396152.6:c.480_482del ENSP00000379456.2:p.Phe161del
ENST00000405342.5:c.480_482del ENSP00000385261.1:p.Phe161del
ENST00000409467.5:c.444_446del ENSP00000387166.1:p.Phe149del
ENST00000409467.6:c.444_446del ENSP00000387166.1:p.Phe149del
ENST00000409787.4:c.480_482del ENSP00000387205.1:p.Phe161del
ENST00000456458.5:c.*487_*489del ENSP00000389676.2:n.*487_*489del
ENST00000610140.5:c.582_584del ENSP00000476480.1:p.Phe195del
ENST00000620705.4:c.597_599del ENSP00000484415.1:p.Phe200del
ENST00000643244.1:c.480_482del ENSP00000496364.1:p.Phe161del
XM_011515409.1:c.444_446del XP_011513711.1:p.Phe149del