Canonical Allele Identifier: CA1963611047

Gene: SLC1A2

Linked Data

• dbSNP Id: rs1950386930
• gnomAD v4: 11-35261040-GCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35261043_35261045del , CM000673.2:g.35261043_35261045del	GRCh38
NC_000011.9:g.35282590_35282592del , CM000673.1:g.35282590_35282592del	GRCh37
NC_000011.8:g.35239166_35239168del	NCBI36
NG_008727.1:g.163516_163518del
NG_008727.2:g.163516_163518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1654-78_1654-76del MANE Select	ENSP00000278379.3:n.1654-78_1654-76del
ENST00000395750.6:c.1642-78_1642-76del	ENSP00000379099.2:n.1642-78_1642-76del
ENST00000395753.6:c.1627-78_1627-76del	ENSP00000379102.1:n.1627-78_1627-76del
ENST00000479543.2:n.1206-78_1206-76del
ENST00000642171.1:c.*36-78_*36-76del	ENSP00000495538.1:n.*36-78_*36-76del
ENST00000642448.1:n.1746-78_1746-76del
ENST00000642769.1:c.920-78_920-76del
ENST00000643000.1:c.1627-78_1627-76del	ENSP00000495164.1:n.1627-78_1627-76del
ENST00000643134.1:c.1654-91_1654-89del	ENSP00000495188.1:n.1654-91_1654-89del
ENST00000643522.1:c.1420-78_1420-76del	ENSP00000496375.1:n.1420-78_1420-76del
ENST00000644050.1:c.1627-78_1627-76del	ENSP00000496123.1:n.1627-78_1627-76del
ENST00000644299.1:c.1627-78_1627-76del	ENSP00000494669.1:n.1627-78_1627-76del
ENST00000644459.1:c.*146-78_*146-76del	ENSP00000495861.1:n.*146-78_*146-76del
ENST00000644779.1:c.1765-78_1765-76del	ENSP00000494258.1:n.1765-78_1765-76del
ENST00000644868.1:c.1716-78_1716-76del	ENSP00000496760.1:n.1716-78_1716-76del
ENST00000645194.1:c.1627-78_1627-76del	ENSP00000496093.1:n.1627-78_1627-76del
ENST00000645303.1:c.1669-78_1669-76del	ENSP00000496667.1:n.1669-78_1669-76del
ENST00000645542.1:n.360-78_360-76del
ENST00000645634.1:c.1627-78_1627-76del	ENSP00000493945.1:n.1627-78_1627-76del
ENST00000646080.1:c.1645-78_1645-76del	ENSP00000494113.1:n.1645-78_1645-76del
ENST00000647076.1:c.395-78_395-76del
ENST00000647104.1:c.1627-78_1627-76del	ENSP00000494025.1:n.1627-78_1627-76del
ENST00000278379.7:c.1654-78_1654-76del	ENSP00000278379.3:n.1654-78_1654-76del
ENST00000395750.5:c.1627-78_1627-76del	ENSP00000379099.1:n.1627-78_1627-76del
ENST00000395753.5:c.1627-78_1627-76del	ENSP00000379102.1:n.1627-78_1627-76del
ENST00000464522.2:c.219+4484_219+4486del	ENSP00000435406.1:n.219+4484_219+4486del
ENST00000479543.1:n.470-78_470-76del
NM_001195728.2:c.1627-78_1627-76del	NP_001182657.1:n.1627-78_1627-76del
NM_001252652.1:c.1627-78_1627-76del	NP_001239581.1:n.1627-78_1627-76del
NM_004171.3:c.1654-78_1654-76del	NP_004162.2:n.1654-78_1654-76del
XM_005253067.1:c.1645-78_1645-76del	XP_005253124.1:n.1645-78_1645-76del
XM_011520284.1:c.1702-78_1702-76del	XP_011518586.1:n.1702-78_1702-76del
XM_011520285.1:c.1642-78_1642-76del	XP_011518587.1:n.1642-78_1642-76del
XM_011520286.1:c.1567-78_1567-76del	XP_011518588.1:n.1567-78_1567-76del
XM_011520287.1:c.1468-78_1468-76del	XP_011518589.1:n.1468-78_1468-76del
XM_011520285.2:c.1642-78_1642-76del	XP_011518587.1:n.1642-78_1642-76del
XM_017018136.1:c.1669-78_1669-76del	XP_016873625.1:n.1669-78_1669-76del
XM_017018137.1:c.1627-78_1627-76del	XP_016873626.1:n.1627-78_1627-76del
XM_017018138.1:c.1627-78_1627-76del	XP_016873627.1:n.1627-78_1627-76del
XM_017018139.1:c.1420-78_1420-76del	XP_016873628.1:n.1420-78_1420-76del
NM_004171.4:c.1654-78_1654-76del MANE Select	NP_004162.2:n.1654-78_1654-76del
NM_001195728.3:c.1627-78_1627-76del	NP_001182657.1:n.1627-78_1627-76del
NM_001252652.2:c.1627-78_1627-76del	NP_001239581.1:n.1627-78_1627-76del