Canonical Allele Identifier: CA645572331

Gene: SLC1A2

Linked Data

• COSMIC: COSM6444004

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260913_35260914delinsAA , CM000673.2:g.35260913_35260914delinsAA	GRCh38
NC_000011.9:g.35282460_35282461delinsAA , CM000673.1:g.35282460_35282461delinsAA	GRCh37
NC_000011.8:g.35239036_35239037delinsAA	NCBI36
NG_008727.1:g.163645_163646delinsTT
NG_008727.2:g.163645_163646delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1705_1706delinsTT MANE Select	ENSP00000278379.3:p.Pro569Phe
ENST00000395750.6:c.1693_1694delinsTT	ENSP00000379099.2:p.Pro565Phe
ENST00000395753.6:c.1678_1679delinsTT	ENSP00000379102.1:p.Pro560Phe
ENST00000479543.2:n.1257_1258delinsTT
ENST00000642171.1:c.*87_*88delinsTT	ENSP00000495538.1:n.*87_*88delinsTT
ENST00000642448.1:n.1797_1798delinsTT
ENST00000642769.1:c.971_972delinsTT
ENST00000643000.1:c.1678_1679delinsTT	ENSP00000495164.1:p.Pro560Phe
ENST00000643134.1:c.1692_1693delinsTT	ENSP00000495188.1:p.Leu565Phe
ENST00000643522.1:c.1471_1472delinsTT	ENSP00000496375.1:p.Pro491Phe
ENST00000644050.1:c.1678_1679delinsTT	ENSP00000496123.1:p.Pro560Phe
ENST00000644299.1:c.1678_1679delinsTT	ENSP00000494669.1:p.Pro560Phe
ENST00000644459.1:c.*197_*198delinsTT	ENSP00000495861.1:n.*197_*198delinsTT
ENST00000644779.1:c.1816_1817delinsTT	ENSP00000494258.1:p.Pro606Phe
ENST00000644868.1:c.1767_1768delinsTT	ENSP00000496760.1:n.1767_1768delinsTT
ENST00000645194.1:c.1678_1679delinsTT	ENSP00000496093.1:p.Pro560Phe
ENST00000645303.1:c.1720_1721delinsTT	ENSP00000496667.1:p.Pro574Phe
ENST00000645542.1:n.411_412delinsTT
ENST00000645634.1:c.1678_1679delinsTT	ENSP00000493945.1:p.Pro560Phe
ENST00000646080.1:c.1696_1697delinsTT	ENSP00000494113.1:p.Pro566Phe
ENST00000647076.1:c.446_447delinsTT
ENST00000647104.1:c.1678_1679delinsTT	ENSP00000494025.1:p.Pro560Phe
ENST00000278379.7:c.1705_1706delinsTT	ENSP00000278379.3:p.Pro569Phe
ENST00000395750.5:c.1678_1679delinsTT	ENSP00000379099.1:p.Pro560Phe
ENST00000395753.5:c.1678_1679delinsTT	ENSP00000379102.1:p.Pro560Phe
ENST00000464522.2:c.219+4613_219+4614delinsTT	ENSP00000435406.1:n.219+4613_219+4614delinsTT
ENST00000479543.1:n.521_522delinsTT
NM_001195728.2:c.1678_1679delinsTT	NP_001182657.1:p.Pro560Phe
NM_001252652.1:c.1678_1679delinsTT	NP_001239581.1:p.Pro560Phe
NM_004171.3:c.1705_1706delinsTT	NP_004162.2:p.Pro569Phe
XM_005253067.1:c.1696_1697delinsTT	XP_005253124.1:p.Pro566Phe
XM_011520284.1:c.1753_1754delinsTT	XP_011518586.1:p.Pro585Phe
XM_011520285.1:c.1693_1694delinsTT	XP_011518587.1:p.Pro565Phe
XM_011520286.1:c.1618_1619delinsTT	XP_011518588.1:p.Pro540Phe
XM_011520287.1:c.1519_1520delinsTT	XP_011518589.1:p.Pro507Phe
XM_011520285.2:c.1693_1694delinsTT	XP_011518587.1:p.Pro565Phe
XM_017018136.1:c.1720_1721delinsTT	XP_016873625.1:p.Pro574Phe
XM_017018137.1:c.1678_1679delinsTT	XP_016873626.1:p.Pro560Phe
XM_017018138.1:c.1678_1679delinsTT	XP_016873627.1:p.Pro560Phe
XM_017018139.1:c.1471_1472delinsTT	XP_016873628.1:p.Pro491Phe
NM_004171.4:c.1705_1706delinsTT MANE Select	NP_004162.2:p.Pro569Phe
NM_001195728.3:c.1678_1679delinsTT	NP_001182657.1:p.Pro560Phe
NM_001252652.2:c.1678_1679delinsTT	NP_001239581.1:p.Pro560Phe