Canonical Allele Identifier: CA8947404
Community Standard Title: NM_015865.7(SLC14A1):c.510del (p.Lys170AsnfsTer?)
Gene: SLC14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45736495del , CM000680.2:g.45736495del GRCh38
NC_000018.9:g.43316460del , CM000680.1:g.43316460del GRCh37
NC_000018.8:g.41570458del NCBI36
NG_011775.3:g.17369del
NG_011775.4:g.54471del

Transcript Alleles

HGVS Amino-acid Change
NM_015865.7:c.510del MANE Select NP_056949.4:p.Lys170AsnfsTer?
ENST00000321925.9:c.510del MANE Select ENSP00000318546.4:p.Lys170AsnfsTer?
NM_001128588.3:c.678del NP_001122060.3:p.Lys226AsnfsTer?
NM_001128588.4:c.678del NP_001122060.3:p.Lys226AsnfsTer?
NM_001146036.2:c.510del NP_001139508.2:p.Lys170AsnfsTer?
NM_001146036.3:c.510del NP_001139508.2:p.Lys170AsnfsTer?
NM_001146037.1:c.678del NP_001139509.1:p.Lys226AsnfsTer?
NM_001308278.1:c.195del NP_001295207.1:p.Lys65AsnfsTer?
NM_001308278.2:c.195del NP_001295207.1:p.Lys65AsnfsTer?
NM_001308279.1:c.114del NP_001295208.1:p.Lys38AsnfsTer?
NM_001308279.2:c.114del NP_001295208.1:p.Lys38AsnfsTer?
NM_015865.6:c.510del NP_056949.4:p.Lys170AsnfsTer?
ENST00000321925.8:c.510del ENSP00000318546.4:p.Lys170AsnfsTer?
ENST00000402943.6:c.195del ENSP00000385320.2:p.Lys65AsnfsTer?
ENST00000415427.7:c.678del ENSP00000412309.2:p.Lys226AsnfsTer?
ENST00000436407.7:c.678del ENSP00000390637.2:p.Lys226AsnfsTer?
ENST00000502059.6:c.186del ENSP00000442180.1:p.Lys62AsnfsTer?
ENST00000502059.7:c.316del ENSP00000442180.2:p.Met106TrpfsTer?
ENST00000535474.5:c.114del ENSP00000441998.1:p.Lys38AsnfsTer?
ENST00000586142.5:c.510del ENSP00000470476.1:p.Lys170AsnfsTer?
ENST00000586951.6:c.510del ENSP00000465702.2:p.Lys170AsnfsTer?
ENST00000588179.5:c.638+2093del ENSP00000467898.2:n.638+2093del
ENST00000588179.6:c.638+2093del ENSP00000467898.2:n.638+2093del
ENST00000589322.6:c.114del ENSP00000466273.2:p.Lys38AsnfsTer?
ENST00000589322.7:c.114del ENSP00000466273.3:p.Lys38AsnfsTer?
ENST00000589700.5:c.510del ENSP00000465044.1:p.Lys170AsnfsTer?
ENST00000590246.5:c.195del ENSP00000468763.1:p.Lys65AsnfsTer?
ENST00000590246.6:c.195del ENSP00000468763.2:p.Lys65AsnfsTer?
ENST00000590377.1:c.233del
ENST00000591642.1:n.326del
ENST00000591943.1:n.536+2093del
ENST00000619403.4:c.510del ENSP00000479595.1:p.Lys170AsnfsTer?
XM_005258329.1:c.678del XP_005258386.1:p.Lys226AsnfsTer?
XM_005258333.1:c.114del XP_005258390.1:p.Lys38AsnfsTer?
XM_006722526.2:c.615del XP_006722589.1:p.Lys205AsnfsTer?
XM_006722526.3:c.615del XP_006722589.1:p.Lys205AsnfsTer?
XM_011526141.1:c.615del XP_011524443.1:p.Lys205AsnfsTer?
XM_011526142.1:c.615del XP_011524444.1:p.Lys205AsnfsTer?
XM_011526143.1:c.678del XP_011524445.1:p.Lys226AsnfsTer?
XM_011526144.1:c.678del XP_011524446.1:p.Lys226AsnfsTer?
XM_024451238.1:c.510del XP_024307006.1:p.Lys170AsnfsTer?
XR_001753266.1:n.876del
XR_935423.2:n.826+973del
XR_935425.1:n.808+973del