Canonical Allele Identifier: CA629475483

Gene: SLC14A1

Linked Data

• dbSNP Id: rs1382821314
• gnomAD v2: 18-43319586-TG-T
• gnomAD v4: 18-45739621-TG-T
• MyVariant Identifiers: chr18:g.43319587del (hg19) ; chr18:g.45739622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739623del , CM000680.2:g.45739623del	GRCh38
NC_000018.9:g.43319588del , CM000680.1:g.43319588del	GRCh37
NC_000018.8:g.41573586del	NCBI36
NG_011775.3:g.20497del
NG_011775.4:g.57599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.907del MANE Select	ENSP00000318546.4:p.Ala303ArgfsTer?
ENST00000502059.7:c.*260del	ENSP00000442180.2:n.*260del
ENST00000586951.6:c.907del	ENSP00000465702.2:p.Ala303ArgfsTer?
ENST00000588179.6:c.*237del	ENSP00000467898.2:n.*237del
ENST00000589322.7:c.511del	ENSP00000466273.3:p.Ala171ArgfsTer?
ENST00000321925.8:c.907del	ENSP00000318546.4:p.Ala303ArgfsTer?
ENST00000402943.6:c.592del	ENSP00000385320.2:p.Ala198ArgfsTer?
ENST00000415427.7:c.1075del	ENSP00000412309.2:p.Ala359ArgfsTer?
ENST00000436407.7:c.1075del	ENSP00000390637.2:p.Ala359ArgfsTer?
ENST00000502059.6:c.583del	ENSP00000442180.1:p.Ala195ArgfsTer?
ENST00000535474.5:c.511del	ENSP00000441998.1:p.Ala171ArgfsTer?
ENST00000586142.5:c.907del	ENSP00000470476.1:p.Ala303ArgfsTer?
ENST00000586854.1:n.340del
ENST00000588179.5:c.*237del	ENSP00000467898.2:n.*237del
ENST00000589700.5:c.759del	ENSP00000465044.1:p.Trp253CysfsTer30
ENST00000590377.1:c.386+2975del
ENST00000591541.2:n.122del
ENST00000619403.4:c.759del	ENSP00000479595.1:p.Trp253CysfsTer30
NM_001128588.3:c.1075del	NP_001122060.3:p.Ala359ArgfsTer?
NM_001146036.2:c.907del	NP_001139508.2:p.Ala303ArgfsTer?
NM_001146037.1:c.1075del	NP_001139509.1:p.Ala359ArgfsTer?
NM_001308278.1:c.592del	NP_001295207.1:p.Ala198ArgfsTer?
NM_001308279.1:c.511del	NP_001295208.1:p.Ala171ArgfsTer?
NM_015865.6:c.907del	NP_056949.4:p.Ala303ArgfsTer?
XM_005258329.1:c.1075del	XP_005258386.1:p.Ala359ArgfsTer?
XM_005258333.1:c.511del	XP_005258390.1:p.Ala171ArgfsTer?
XM_006722526.2:c.1012del	XP_006722589.1:p.Ala338ArgfsTer?
XM_011526141.1:c.1012del	XP_011524443.1:p.Ala338ArgfsTer?
XM_011526142.1:c.1012del	XP_011524444.1:p.Ala338ArgfsTer?
XM_011526143.1:c.1075del	XP_011524445.1:p.Ala359ArgfsTer?
XM_011526144.1:c.1075del	XP_011524446.1:p.Ala359ArgfsTer28
XR_935425.1:n.680-2028del
NM_015865.7:c.907del MANE Select	NP_056949.4:p.Ala303ArgfsTer?
XM_006722526.3:c.1012del	XP_006722589.1:p.Ala338ArgfsTer?
XM_024451238.1:c.907del	XP_024307006.1:p.Ala303ArgfsTer?
XR_001753266.1:n.1273del
XR_001753561.1:n.529-2028del
XR_935423.2:n.698-2028del
NM_001128588.4:c.1075del	NP_001122060.3:p.Ala359ArgfsTer?
NM_001146036.3:c.907del	NP_001139508.2:p.Ala303ArgfsTer?
NM_001308278.2:c.592del	NP_001295207.1:p.Ala198ArgfsTer?
NM_001308279.2:c.511del	NP_001295208.1:p.Ala171ArgfsTer?