Canonical Allele Identifier: CA2574799162

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260903-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260904del , CM000673.2:g.35260904del	GRCh38
NC_000011.9:g.35282451del , CM000673.1:g.35282451del	GRCh37
NC_000011.8:g.35239027del	NCBI36
NG_008727.1:g.163655del
NG_008727.2:g.163655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1715del MANE Select	ENSP00000278379.3:p.Arg572LeufsTer23
ENST00000395750.6:c.1703del	ENSP00000379099.2:p.Arg568LeufsTer23
ENST00000395753.6:c.1688del	ENSP00000379102.1:p.Arg563LeufsTer23
ENST00000479543.2:n.1267del
ENST00000642171.1:c.*97del	ENSP00000495538.1:n.*97del
ENST00000642448.1:n.1807del
ENST00000642769.1:c.981del
ENST00000643000.1:c.1688del	ENSP00000495164.1:p.Arg563LeufsTer23
ENST00000643134.1:c.1702del	ENSP00000495188.1:p.Val568Ter
ENST00000643522.1:c.1481del	ENSP00000496375.1:p.Arg494LeufsTer23
ENST00000644050.1:c.1688del	ENSP00000496123.1:p.Arg563LeufsTer23
ENST00000644299.1:c.1688del	ENSP00000494669.1:p.Arg563LeufsTer23
ENST00000644459.1:c.*207del	ENSP00000495861.1:n.*207del
ENST00000644779.1:c.1826del	ENSP00000494258.1:p.Arg609LeufsTer23
ENST00000644868.1:c.1777del	ENSP00000496760.1:n.1777del
ENST00000645194.1:c.1688del	ENSP00000496093.1:p.Arg563LeufsTer23
ENST00000645303.1:c.1730del	ENSP00000496667.1:p.Arg577LeufsTer23
ENST00000645542.1:n.421del
ENST00000645634.1:c.1688del	ENSP00000493945.1:p.Arg563LeufsTer23
ENST00000646080.1:c.1706del	ENSP00000494113.1:p.Arg569LeufsTer23
ENST00000647076.1:c.456del
ENST00000647104.1:c.1688del	ENSP00000494025.1:p.Arg563LeufsTer23
ENST00000278379.7:c.1715del	ENSP00000278379.3:p.Arg572LeufsTer23
ENST00000395750.5:c.1688del	ENSP00000379099.1:p.Arg563LeufsTer23
ENST00000395753.5:c.1688del	ENSP00000379102.1:p.Arg563LeufsTer23
ENST00000464522.2:c.219+4623del	ENSP00000435406.1:n.219+4623del
ENST00000479543.1:n.531del
NM_001195728.2:c.1688del	NP_001182657.1:p.Arg563LeufsTer23
NM_001252652.1:c.1688del	NP_001239581.1:p.Arg563LeufsTer23
NM_004171.3:c.1715del	NP_004162.2:p.Arg572LeufsTer23
XM_005253067.1:c.1706del	XP_005253124.1:p.Arg569LeufsTer23
XM_011520284.1:c.1763del	XP_011518586.1:p.Arg588LeufsTer23
XM_011520285.1:c.1703del	XP_011518587.1:p.Arg568LeufsTer23
XM_011520286.1:c.1628del	XP_011518588.1:p.Arg543LeufsTer23
XM_011520287.1:c.1529del	XP_011518589.1:p.Arg510LeufsTer23
XM_011520285.2:c.1703del	XP_011518587.1:p.Arg568LeufsTer23
XM_017018136.1:c.1730del	XP_016873625.1:p.Arg577LeufsTer23
XM_017018137.1:c.1688del	XP_016873626.1:p.Arg563LeufsTer23
XM_017018138.1:c.1688del	XP_016873627.1:p.Arg563LeufsTer23
XM_017018139.1:c.1481del	XP_016873628.1:p.Arg494LeufsTer23
NM_004171.4:c.1715del MANE Select	NP_004162.2:p.Arg572LeufsTer23
NM_001195728.3:c.1688del	NP_001182657.1:p.Arg563LeufsTer23
NM_001252652.2:c.1688del	NP_001239581.1:p.Arg563LeufsTer23