Canonical Allele Identifier: CA2574799169
Gene: SLC1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35261020_35261021del , CM000673.2:g.35261020_35261021del GRCh38
NC_000011.9:g.35282567_35282568del , CM000673.1:g.35282567_35282568del GRCh37
NC_000011.8:g.35239143_35239144del NCBI36
NG_008727.1:g.163539_163540del
NG_008727.2:g.163539_163540del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1654-55_1654-54del MANE Select ENSP00000278379.3:n.1654-55_1654-54del
ENST00000395750.6:c.1642-55_1642-54del ENSP00000379099.2:n.1642-55_1642-54del
ENST00000395753.6:c.1627-55_1627-54del ENSP00000379102.1:n.1627-55_1627-54del
ENST00000479543.2:n.1206-55_1206-54del
ENST00000642171.1:c.*36-55_*36-54del ENSP00000495538.1:n.*36-55_*36-54del
ENST00000642448.1:n.1746-55_1746-54del
ENST00000642769.1:c.920-55_920-54del
ENST00000643000.1:c.1627-55_1627-54del ENSP00000495164.1:n.1627-55_1627-54del
ENST00000643134.1:c.1654-68_1654-67del ENSP00000495188.1:n.1654-68_1654-67del
ENST00000643522.1:c.1420-55_1420-54del ENSP00000496375.1:n.1420-55_1420-54del
ENST00000644050.1:c.1627-55_1627-54del ENSP00000496123.1:n.1627-55_1627-54del
ENST00000644299.1:c.1627-55_1627-54del ENSP00000494669.1:n.1627-55_1627-54del
ENST00000644459.1:c.*146-55_*146-54del ENSP00000495861.1:n.*146-55_*146-54del
ENST00000644779.1:c.1765-55_1765-54del ENSP00000494258.1:n.1765-55_1765-54del
ENST00000644868.1:c.1716-55_1716-54del ENSP00000496760.1:n.1716-55_1716-54del
ENST00000645194.1:c.1627-55_1627-54del ENSP00000496093.1:n.1627-55_1627-54del
ENST00000645303.1:c.1669-55_1669-54del ENSP00000496667.1:n.1669-55_1669-54del
ENST00000645542.1:n.360-55_360-54del
ENST00000645634.1:c.1627-55_1627-54del ENSP00000493945.1:n.1627-55_1627-54del
ENST00000646080.1:c.1645-55_1645-54del ENSP00000494113.1:n.1645-55_1645-54del
ENST00000647076.1:c.395-55_395-54del
ENST00000647104.1:c.1627-55_1627-54del ENSP00000494025.1:n.1627-55_1627-54del
ENST00000278379.7:c.1654-55_1654-54del ENSP00000278379.3:n.1654-55_1654-54del
ENST00000395750.5:c.1627-55_1627-54del ENSP00000379099.1:n.1627-55_1627-54del
ENST00000395753.5:c.1627-55_1627-54del ENSP00000379102.1:n.1627-55_1627-54del
ENST00000464522.2:c.219+4507_219+4508del ENSP00000435406.1:n.219+4507_219+4508del
ENST00000479543.1:n.470-55_470-54del
NM_001195728.2:c.1627-55_1627-54del NP_001182657.1:n.1627-55_1627-54del
NM_001252652.1:c.1627-55_1627-54del NP_001239581.1:n.1627-55_1627-54del
NM_004171.3:c.1654-55_1654-54del NP_004162.2:n.1654-55_1654-54del
XM_005253067.1:c.1645-55_1645-54del XP_005253124.1:n.1645-55_1645-54del
XM_011520284.1:c.1702-55_1702-54del XP_011518586.1:n.1702-55_1702-54del
XM_011520285.1:c.1642-55_1642-54del XP_011518587.1:n.1642-55_1642-54del
XM_011520286.1:c.1567-55_1567-54del XP_011518588.1:n.1567-55_1567-54del
XM_011520287.1:c.1468-55_1468-54del XP_011518589.1:n.1468-55_1468-54del
XM_011520285.2:c.1642-55_1642-54del XP_011518587.1:n.1642-55_1642-54del
XM_017018136.1:c.1669-55_1669-54del XP_016873625.1:n.1669-55_1669-54del
XM_017018137.1:c.1627-55_1627-54del XP_016873626.1:n.1627-55_1627-54del
XM_017018138.1:c.1627-55_1627-54del XP_016873627.1:n.1627-55_1627-54del
XM_017018139.1:c.1420-55_1420-54del XP_016873628.1:n.1420-55_1420-54del
NM_004171.4:c.1654-55_1654-54del MANE Select NP_004162.2:n.1654-55_1654-54del
NM_001195728.3:c.1627-55_1627-54del NP_001182657.1:n.1627-55_1627-54del
NM_001252652.2:c.1627-55_1627-54del NP_001239581.1:n.1627-55_1627-54del