Canonical Allele Identifier: CA2786247841

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769957del , CM000671.2:g.135769957del	GRCh38
NC_000009.11:g.138661803del , CM000671.1:g.138661803del	GRCh37
NC_000009.10:g.137801624del	NCBI36
NG_033070.1:g.72773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1521del MANE Select	ENSP00000360822.2:p.Cys508ValfsTer12
ENST00000674572.1:c.1362del	ENSP00000501742.1:p.Cys455ValfsTer12
ENST00000675090.1:c.1269del	ENSP00000501833.1:p.Cys424ValfsTer12
ENST00000675399.1:c.1269del	ENSP00000501932.1:p.Cys424ValfsTer12
ENST00000676421.1:c.1278del	ENSP00000502322.1:p.Cys427ValfsTer12
ENST00000263604.5:c.1422del	ENSP00000263604.4:p.Cys475ValfsTer12
ENST00000371757.6:c.1521del	ENSP00000360822.2:p.Cys508ValfsTer12
ENST00000460750.5:c.*1131del	ENSP00000418777.1:n.*1131del
ENST00000486577.6:c.1404del	ENSP00000417578.3:p.Cys469ValfsTer12
ENST00000487664.5:c.1521del	ENSP00000417851.2:p.Cys508ValfsTer12
ENST00000488444.6:c.1464del	ENSP00000419007.3:p.Cys489ValfsTer12
ENST00000490355.6:c.1464del	ENSP00000418003.3:p.Cys489ValfsTer12
ENST00000490363.3:n.1340del
ENST00000491806.6:c.1464del	ENSP00000419086.3:p.Cys489ValfsTer12
ENST00000628528.2:c.1386del	ENSP00000486374.1:p.Cys463ValfsTer12
ENST00000630792.2:c.1362del	ENSP00000486486.1:p.Cys455ValfsTer12
ENST00000631073.2:c.1464del	ENSP00000486130.1:p.Cys489ValfsTer12
NM_001272003.1:c.1386del	NP_001258932.1:p.Cys463ValfsTer12
NM_020822.2:c.1521del	NP_065873.2:p.Cys508ValfsTer12
XM_011518877.1:c.1656del	XP_011517179.1:p.Cys553ValfsTer12
XM_011518878.1:c.1665del	XP_011517180.1:p.Cys556ValfsTer12
XM_011518879.1:c.1656del	XP_011517181.1:p.Cys553ValfsTer12
XM_011518880.1:c.1422del	XP_011517182.1:p.Cys475ValfsTer12
XM_011518881.1:c.1011del	XP_011517183.1:p.Cys338ValfsTer12
XM_011518877.3:c.1656del	XP_011517179.1:p.Cys553ValfsTer12
XM_011518878.3:c.1665del	XP_011517180.1:p.Cys556ValfsTer12
XM_011518879.3:c.1656del	XP_011517181.1:p.Cys553ValfsTer12
XM_011518881.3:c.1011del	XP_011517183.1:p.Cys338ValfsTer12
XM_017014931.1:c.1455del	XP_016870420.1:p.Cys486ValfsTer12
XM_017014932.1:c.1278del	XP_016870421.1:p.Cys427ValfsTer12
XM_017014933.1:c.1011del	XP_016870422.1:p.Cys338ValfsTer12
XM_024447617.1:c.1011del	XP_024303385.1:p.Cys338ValfsTer12
XM_024447618.1:c.1011del	XP_024303386.1:p.Cys338ValfsTer12
NM_020822.3:c.1521del MANE Select	NP_065873.2:p.Cys508ValfsTer12
NM_001272003.2:c.1386del	NP_001258932.1:p.Cys463ValfsTer12