Canonical Allele Identifier: CA2812338890
Gene: SLC14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45739502_45739518del , CM000680.2:g.45739502_45739518del GRCh38
NC_000018.9:g.43319467_43319483del , CM000680.1:g.43319467_43319483del GRCh37
NC_000018.8:g.41573465_41573481del NCBI36
NG_011775.3:g.20376_20392del
NG_011775.4:g.57478_57494del

Transcript Alleles

HGVS Amino-acid change
ENST00000321925.9:c.812-26_812-10del MANE Select ENSP00000318546.4:n.812-26_812-10del
ENST00000502059.7:c.*165-26_*165-10del ENSP00000442180.2:n.*165-26_*165-10del
ENST00000586951.6:c.812-26_812-10del ENSP00000465702.2:n.812-26_812-10del
ENST00000588179.6:c.*142-26_*142-10del ENSP00000467898.2:n.*142-26_*142-10del
ENST00000589322.7:c.416-26_416-10del ENSP00000466273.3:n.416-26_416-10del
ENST00000321925.8:c.812-26_812-10del ENSP00000318546.4:n.812-26_812-10del
ENST00000402943.6:c.497-26_497-10del ENSP00000385320.2:n.497-26_497-10del
ENST00000415427.7:c.980-26_980-10del ENSP00000412309.2:n.980-26_980-10del
ENST00000436407.7:c.980-26_980-10del ENSP00000390637.2:n.980-26_980-10del
ENST00000502059.6:c.488-26_488-10del ENSP00000442180.1:n.488-26_488-10del
ENST00000535474.5:c.416-26_416-10del ENSP00000441998.1:n.416-26_416-10del
ENST00000586142.5:c.812-26_812-10del ENSP00000470476.1:n.812-26_812-10del
ENST00000586854.1:n.245-26_245-10del
ENST00000588179.5:c.*142-26_*142-10del ENSP00000467898.2:n.*142-26_*142-10del
ENST00000589322.6:c.416-26_416-10del ENSP00000466273.2:n.416-26_416-10del
ENST00000589700.5:c.664-26_664-10del ENSP00000465044.1:n.664-26_664-10del
ENST00000590377.1:c.386+2854_386+2870del
ENST00000619403.4:c.664-26_664-10del ENSP00000479595.1:n.664-26_664-10del
NM_001128588.3:c.980-26_980-10del NP_001122060.3:n.980-26_980-10del
NM_001146036.2:c.812-26_812-10del NP_001139508.2:n.812-26_812-10del
NM_001146037.1:c.980-26_980-10del NP_001139509.1:n.980-26_980-10del
NM_001308278.1:c.497-26_497-10del NP_001295207.1:n.497-26_497-10del
NM_001308279.1:c.416-26_416-10del NP_001295208.1:n.416-26_416-10del
NM_015865.6:c.812-26_812-10del NP_056949.4:n.812-26_812-10del
XM_005258329.1:c.980-26_980-10del XP_005258386.1:n.980-26_980-10del
XM_005258333.1:c.416-26_416-10del XP_005258390.1:n.416-26_416-10del
XM_006722526.2:c.917-26_917-10del XP_006722589.1:n.917-26_917-10del
XM_011526141.1:c.917-26_917-10del XP_011524443.1:n.917-26_917-10del
XM_011526142.1:c.917-26_917-10del XP_011524444.1:n.917-26_917-10del
XM_011526143.1:c.980-26_980-10del XP_011524445.1:n.980-26_980-10del
XM_011526144.1:c.980-26_980-10del XP_011524446.1:n.980-26_980-10del
XR_935425.1:n.680-1919_680-1903del
NM_015865.7:c.812-26_812-10del MANE Select NP_056949.4:n.812-26_812-10del
XM_006722526.3:c.917-26_917-10del XP_006722589.1:n.917-26_917-10del
XM_024451238.1:c.812-26_812-10del XP_024307006.1:n.812-26_812-10del
XR_001753266.1:n.1178-26_1178-10del
XR_001753561.1:n.529-1919_529-1903del
XR_935423.2:n.698-1919_698-1903del
NM_001128588.4:c.980-26_980-10del NP_001122060.3:n.980-26_980-10del
NM_001146036.3:c.812-26_812-10del NP_001139508.2:n.812-26_812-10del
NM_001308278.2:c.497-26_497-10del NP_001295207.1:n.497-26_497-10del
NM_001308279.2:c.416-26_416-10del NP_001295208.1:n.416-26_416-10del