Canonical Allele Identifier: CA2692516594

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765670-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765671del , CM000671.2:g.135765671del	GRCh38
NC_000009.11:g.138657517del , CM000671.1:g.138657517del	GRCh37
NC_000009.10:g.137797338del	NCBI36
NG_033070.1:g.68487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1248del MANE Select	ENSP00000360822.2:p.Arg417AlafsTer?
ENST00000674572.1:c.1089del	ENSP00000501742.1:p.Arg364AlafsTer?
ENST00000675090.1:c.996del	ENSP00000501833.1:p.Arg333AlafsTer?
ENST00000675399.1:c.996del	ENSP00000501932.1:p.Arg333AlafsTer?
ENST00000676421.1:c.1005del	ENSP00000502322.1:p.Arg336AlafsTer?
ENST00000263604.5:c.1149del	ENSP00000263604.4:p.Arg384AlafsTer?
ENST00000371757.6:c.1248del	ENSP00000360822.2:p.Arg417AlafsTer?
ENST00000460750.5:c.*858del	ENSP00000418777.1:n.*858del
ENST00000486577.6:c.1131del	ENSP00000417578.3:p.Arg378AlafsTer?
ENST00000487664.5:c.1248del	ENSP00000417851.2:p.Arg417AlafsTer?
ENST00000488444.6:c.1191del	ENSP00000419007.3:p.Arg398AlafsTer?
ENST00000490355.6:c.1191del	ENSP00000418003.3:p.Arg398AlafsTer?
ENST00000490363.3:n.1067del
ENST00000491806.6:c.1191del	ENSP00000419086.3:p.Arg398AlafsTer?
ENST00000628528.2:c.1113del	ENSP00000486374.1:p.Arg372AlafsTer?
ENST00000630792.2:c.1089del	ENSP00000486486.1:p.Arg364AlafsTer?
ENST00000631073.2:c.1191del	ENSP00000486130.1:p.Arg398AlafsTer?
NM_001272003.1:c.1113del	NP_001258932.1:p.Arg372AlafsTer?
NM_020822.2:c.1248del	NP_065873.2:p.Arg417AlafsTer?
XM_011518877.1:c.1383del	XP_011517179.1:p.Arg462AlafsTer?
XM_011518878.1:c.1392del	XP_011517180.1:p.Arg465AlafsTer?
XM_011518879.1:c.1383del	XP_011517181.1:p.Arg462AlafsTer?
XM_011518880.1:c.1149del	XP_011517182.1:p.Arg384AlafsTer?
XM_011518881.1:c.738del	XP_011517183.1:p.Arg247AlafsTer?
XM_011518877.3:c.1383del	XP_011517179.1:p.Arg462AlafsTer?
XM_011518878.3:c.1392del	XP_011517180.1:p.Arg465AlafsTer?
XM_011518879.3:c.1383del	XP_011517181.1:p.Arg462AlafsTer?
XM_011518881.3:c.738del	XP_011517183.1:p.Arg247AlafsTer?
XM_017014931.1:c.1182del	XP_016870420.1:p.Arg395AlafsTer?
XM_017014932.1:c.1005del	XP_016870421.1:p.Arg336AlafsTer?
XM_017014933.1:c.738del	XP_016870422.1:p.Arg247AlafsTer?
XM_024447617.1:c.738del	XP_024303385.1:p.Arg247AlafsTer?
XM_024447618.1:c.738del	XP_024303386.1:p.Arg247AlafsTer?
NM_020822.3:c.1248del MANE Select	NP_065873.2:p.Arg417AlafsTer?
NM_001272003.2:c.1113del	NP_001258932.1:p.Arg372AlafsTer?