Canonical Allele Identifier: CA2843073806

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750112dup , CM000671.2:g.135750112dup	GRCh38
NC_000009.11:g.138641958dup , CM000671.1:g.138641958dup	GRCh37
NC_000009.10:g.137781779dup	NCBI36
NG_033070.1:g.52928dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.269dup MANE Select	ENSP00000360822.2:p.Tyr91LeufsTer?
ENST00000637018.1:n.74dup
ENST00000638123.1:n.4dup
ENST00000674572.1:c.110dup	ENSP00000501742.1:p.Tyr38LeufsTer?
ENST00000675090.1:c.17dup	ENSP00000501833.1:p.Tyr7LeufsTer?
ENST00000675399.1:c.17dup	ENSP00000501932.1:p.Tyr7LeufsTer?
ENST00000676421.1:c.17dup	ENSP00000502322.1:p.Tyr7LeufsTer?
ENST00000263604.5:c.170dup	ENSP00000263604.4:p.Tyr58LeufsTer?
ENST00000371757.6:c.269dup	ENSP00000360822.2:p.Tyr91LeufsTer?
ENST00000460750.5:c.269dup	ENSP00000418777.1:p.Tyr91LeufsTer30
ENST00000473941.5:c.110dup	ENSP00000420764.1:p.Tyr38LeufsTer?
ENST00000486577.6:c.152dup	ENSP00000417578.3:p.Tyr52LeufsTer?
ENST00000487664.5:c.269dup	ENSP00000417851.2:p.Tyr91LeufsTer?
ENST00000488444.6:c.212dup	ENSP00000419007.3:p.Tyr72LeufsTer?
ENST00000490355.6:c.212dup	ENSP00000418003.3:p.Tyr72LeufsTer?
ENST00000491806.6:c.212dup	ENSP00000419086.3:p.Tyr72LeufsTer?
ENST00000628528.2:c.125dup	ENSP00000486374.1:p.Tyr43LeufsTer?
ENST00000630792.2:c.110dup	ENSP00000486486.1:p.Tyr38LeufsTer?
ENST00000631073.2:c.212dup	ENSP00000486130.1:p.Tyr72LeufsTer?
NM_001272003.1:c.125dup	NP_001258932.1:p.Tyr43LeufsTer?
NM_020822.2:c.269dup	NP_065873.2:p.Tyr91LeufsTer?
XM_011518877.1:c.404dup	XP_011517179.1:p.Tyr136LeufsTer?
XM_011518878.1:c.404dup	XP_011517180.1:p.Tyr136LeufsTer?
XM_011518879.1:c.404dup	XP_011517181.1:p.Tyr136LeufsTer?
XM_011518880.1:c.170dup	XP_011517182.1:p.Tyr58LeufsTer?
XM_011518877.3:c.404dup	XP_011517179.1:p.Tyr136LeufsTer?
XM_011518878.3:c.404dup	XP_011517180.1:p.Tyr136LeufsTer?
XM_011518879.3:c.404dup	XP_011517181.1:p.Tyr136LeufsTer?
XM_017014931.1:c.294dup	XP_016870420.1:p.Leu99SerfsTer?
XM_017014932.1:c.17dup	XP_016870421.1:p.Tyr7LeufsTer?
XM_017014933.1:c.-151dup	XP_016870422.1:n.-151dup
XM_024447617.1:c.-251dup	XP_024303385.1:n.-251dup
XM_024447618.1:c.-251dup	XP_024303386.1:n.-251dup
NM_020822.3:c.269dup MANE Select	NP_065873.2:p.Tyr91LeufsTer?
NM_001272003.2:c.125dup	NP_001258932.1:p.Tyr43LeufsTer?