Canonical Allele Identifier: CA2555395688

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260905del , CM000673.2:g.35260905del	GRCh38
NC_000011.9:g.35282452del , CM000673.1:g.35282452del	GRCh37
NC_000011.8:g.35239028del	NCBI36
NG_008727.1:g.163654del
NG_008727.2:g.163654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1714del MANE Select	ENSP00000278379.3:p.Arg572ValfsTer23
ENST00000395750.6:c.1702del	ENSP00000379099.2:p.Arg568ValfsTer23
ENST00000395753.6:c.1687del	ENSP00000379102.1:p.Arg563ValfsTer23
ENST00000479543.2:n.1266del
ENST00000642171.1:c.*96del	ENSP00000495538.1:n.*96del
ENST00000642448.1:n.1806del
ENST00000642769.1:c.980del
ENST00000643000.1:c.1687del	ENSP00000495164.1:p.Arg563ValfsTer23
ENST00000643134.1:c.1701del	ENSP00000495188.1:p.Asn567LysfsTer2
ENST00000643522.1:c.1480del	ENSP00000496375.1:p.Arg494ValfsTer23
ENST00000644050.1:c.1687del	ENSP00000496123.1:p.Arg563ValfsTer23
ENST00000644299.1:c.1687del	ENSP00000494669.1:p.Arg563ValfsTer23
ENST00000644459.1:c.*206del	ENSP00000495861.1:n.*206del
ENST00000644779.1:c.1825del	ENSP00000494258.1:p.Arg609ValfsTer23
ENST00000644868.1:c.1776del	ENSP00000496760.1:n.1776del
ENST00000645194.1:c.1687del	ENSP00000496093.1:p.Arg563ValfsTer23
ENST00000645303.1:c.1729del	ENSP00000496667.1:p.Arg577ValfsTer23
ENST00000645542.1:n.420del
ENST00000645634.1:c.1687del	ENSP00000493945.1:p.Arg563ValfsTer23
ENST00000646080.1:c.1705del	ENSP00000494113.1:p.Arg569ValfsTer23
ENST00000647076.1:c.455del
ENST00000647104.1:c.1687del	ENSP00000494025.1:p.Arg563ValfsTer23
ENST00000278379.7:c.1714del	ENSP00000278379.3:p.Arg572ValfsTer23
ENST00000395750.5:c.1687del	ENSP00000379099.1:p.Arg563ValfsTer23
ENST00000395753.5:c.1687del	ENSP00000379102.1:p.Arg563ValfsTer23
ENST00000464522.2:c.219+4622del	ENSP00000435406.1:n.219+4622del
ENST00000479543.1:n.530del
NM_001195728.2:c.1687del	NP_001182657.1:p.Arg563ValfsTer23
NM_001252652.1:c.1687del	NP_001239581.1:p.Arg563ValfsTer23
NM_004171.3:c.1714del	NP_004162.2:p.Arg572ValfsTer23
XM_005253067.1:c.1705del	XP_005253124.1:p.Arg569ValfsTer23
XM_011520284.1:c.1762del	XP_011518586.1:p.Arg588ValfsTer23
XM_011520285.1:c.1702del	XP_011518587.1:p.Arg568ValfsTer23
XM_011520286.1:c.1627del	XP_011518588.1:p.Arg543ValfsTer23
XM_011520287.1:c.1528del	XP_011518589.1:p.Arg510ValfsTer23
XM_011520285.2:c.1702del	XP_011518587.1:p.Arg568ValfsTer23
XM_017018136.1:c.1729del	XP_016873625.1:p.Arg577ValfsTer23
XM_017018137.1:c.1687del	XP_016873626.1:p.Arg563ValfsTer23
XM_017018138.1:c.1687del	XP_016873627.1:p.Arg563ValfsTer23
XM_017018139.1:c.1480del	XP_016873628.1:p.Arg494ValfsTer23
NM_004171.4:c.1714del MANE Select	NP_004162.2:p.Arg572ValfsTer23
NM_001195728.3:c.1687del	NP_001182657.1:p.Arg563ValfsTer23
NM_001252652.2:c.1687del	NP_001239581.1:p.Arg563ValfsTer23