Canonical Allele Identifier: CA779754746
Gene: SLC14A1 HGNC NCBI

Linked Data

dbSNP Id: rs1444093504

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45739572del , CM000680.2:g.45739572del GRCh38
NC_000018.9:g.43319537del , CM000680.1:g.43319537del GRCh37
NC_000018.8:g.41573535del NCBI36
NG_011775.3:g.20446del
NG_011775.4:g.57548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321925.9:c.856del MANE Select ENSP00000318546.4:p.Trp286GlyfsTer?
ENST00000502059.7:c.*209del ENSP00000442180.2:n.*209del
ENST00000586951.6:c.856del ENSP00000465702.2:p.Trp286GlyfsTer?
ENST00000588179.6:c.*186del ENSP00000467898.2:n.*186del
ENST00000589322.7:c.460del ENSP00000466273.3:p.Trp154GlyfsTer?
ENST00000321925.8:c.856del ENSP00000318546.4:p.Trp286GlyfsTer?
ENST00000402943.6:c.541del ENSP00000385320.2:p.Trp181GlyfsTer?
ENST00000415427.7:c.1024del ENSP00000412309.2:p.Trp342GlyfsTer?
ENST00000436407.7:c.1024del ENSP00000390637.2:p.Trp342GlyfsTer?
ENST00000502059.6:c.532del ENSP00000442180.1:p.Trp178GlyfsTer?
ENST00000535474.5:c.460del ENSP00000441998.1:p.Trp154GlyfsTer?
ENST00000586142.5:c.856del ENSP00000470476.1:p.Trp286GlyfsTer?
ENST00000586854.1:n.289del
ENST00000588179.5:c.*186del ENSP00000467898.2:n.*186del
ENST00000589322.6:c.460del ENSP00000466273.2:p.Trp154GlyfsTer?
ENST00000589700.5:c.708del ENSP00000465044.1:p.Val238PhefsTer?
ENST00000590377.1:c.386+2924del
ENST00000591541.2:n.71del
ENST00000619403.4:c.708del ENSP00000479595.1:p.Val238PhefsTer?
NM_001128588.3:c.1024del NP_001122060.3:p.Trp342GlyfsTer?
NM_001146036.2:c.856del NP_001139508.2:p.Trp286GlyfsTer?
NM_001146037.1:c.1024del NP_001139509.1:p.Trp342GlyfsTer?
NM_001308278.1:c.541del NP_001295207.1:p.Trp181GlyfsTer?
NM_001308279.1:c.460del NP_001295208.1:p.Trp154GlyfsTer?
NM_015865.6:c.856del NP_056949.4:p.Trp286GlyfsTer?
XM_005258329.1:c.1024del XP_005258386.1:p.Trp342GlyfsTer?
XM_005258333.1:c.460del XP_005258390.1:p.Trp154GlyfsTer?
XM_006722526.2:c.961del XP_006722589.1:p.Trp321GlyfsTer?
XM_011526141.1:c.961del XP_011524443.1:p.Trp321GlyfsTer?
XM_011526142.1:c.961del XP_011524444.1:p.Trp321GlyfsTer?
XM_011526143.1:c.1024del XP_011524445.1:p.Trp342GlyfsTer?
XM_011526144.1:c.1024del XP_011524446.1:p.Trp342GlyfsTer?
XR_935425.1:n.680-1978del
NM_015865.7:c.856del MANE Select NP_056949.4:p.Trp286GlyfsTer?
XM_006722526.3:c.961del XP_006722589.1:p.Trp321GlyfsTer?
XM_024451238.1:c.856del XP_024307006.1:p.Trp286GlyfsTer?
XR_001753266.1:n.1222del
XR_001753561.1:n.529-1978del
XR_935423.2:n.698-1978del
NM_001128588.4:c.1024del NP_001122060.3:p.Trp342GlyfsTer?
NM_001146036.3:c.856del NP_001139508.2:p.Trp286GlyfsTer?
NM_001308278.2:c.541del NP_001295207.1:p.Trp181GlyfsTer?
NM_001308279.2:c.460del NP_001295208.1:p.Trp154GlyfsTer?