Canonical Allele Identifier: CA915941934

Gene: KCNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196492293_196492294del , CM000663.2:g.196492293_196492294del	GRCh38
NC_000001.10:g.196461423_196461424del , CM000663.1:g.196461423_196461424del	GRCh37
NC_000001.9:g.194728046_194728047del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_198503.5:c.143_144del MANE Select	NP_940905.2:p.Leu48GlnfsTer?
ENST00000294725.14:c.143_144del MANE Select	ENSP00000294725.8:p.Leu48GlnfsTer?
NM_001287819.1:c.143_144del	NP_001274748.1:p.Leu48GlnfsTer?
NM_001287819.2:c.143_144del	NP_001274748.1:p.Leu48GlnfsTer?
NM_001287819.3:c.143_144del	NP_001274748.1:p.Leu48GlnfsTer?
NM_001287820.1:c.143_144del	NP_001274749.1:p.Leu48GlnfsTer?
NM_001287820.2:c.143_144del	NP_001274749.1:p.Leu48GlnfsTer?
NM_001287820.3:c.143_144del	NP_001274749.1:p.Leu48GlnfsTer?
NM_198503.3:c.143_144del	NP_940905.2:p.Leu48GlnfsTer?
NM_198503.4:c.143_144del	NP_940905.2:p.Leu48GlnfsTer?
NR_146057.1:n.410_411del
NR_146057.2:n.274_275del
NR_146058.1:n.410_411del
NR_146058.2:n.274_275del
ENST00000294725.13:c.143_144del	ENSP00000294725.8:p.Leu48GlnfsTer?
ENST00000367433.9:c.143_144del	ENSP00000356403.5:p.Leu48GlnfsTer?
ENST00000451324.6:c.-478_-477del	ENSP00000405474.2:n.-478_-477del
ENST00000609185.5:c.143_144del	ENSP00000476657.1:p.Leu48GlnfsTer?
ENST00000610076.1:n.394_395del
ENST00000647658.1:c.143_144del	ENSP00000496885.1:p.Leu48GlnfsTer?
ENST00000673703.1:c.131_132del	ENSP00000501240.1:p.Leu44GlnfsTer?
XM_006711294.1:c.143_144del	XP_006711357.1:p.Leu48GlnfsTer?
XM_006711294.3:c.143_144del	XP_006711357.1:p.Leu48GlnfsTer?
XM_006711295.1:c.143_144del	XP_006711358.1:p.Leu48GlnfsTer?
XM_006711295.3:c.143_144del	XP_006711358.1:p.Leu48GlnfsTer?
XM_011509482.1:c.143_144del	XP_011507784.1:p.Leu48GlnfsTer?
XM_011509483.1:c.143_144del	XP_011507785.1:p.Leu48GlnfsTer?
XM_011509483.3:c.143_144del	XP_011507785.1:p.Leu48GlnfsTer?
XM_017001179.2:c.143_144del	XP_016856668.1:p.Leu48GlnfsTer?
XM_017001180.2:c.143_144del	XP_016856669.1:p.Leu48GlnfsTer?
XM_017001185.2:c.143_144del	XP_016856674.1:p.Leu48GlnfsTer?
XR_001737149.2:n.394_395del
XR_001737151.2:n.394_395del
XR_921773.1:n.394_395del
XR_921774.1:n.394_395del
XR_921774.3:n.394_395del
XR_921775.1:n.394_395del