Canonical Allele Identifier: CA1129962670

Gene: KCNT1

Linked Data

• gnomAD v3: 9-135766076-GACCATCTA-G
• gnomAD v4: 9-135766076-GACCATCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135766077_135766084del , CM000671.2:g.135766077_135766084del	GRCh38
NC_000009.11:g.138657923_138657930del , CM000671.1:g.138657923_138657930del	GRCh37
NC_000009.10:g.137797744_137797751del	NCBI36
NG_033070.1:g.68893_68900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+317_1337+324del MANE Select	ENSP00000360822.2:n.1337+317_1337+324del
ENST00000636003.1:c.27+317_27+324del
ENST00000636995.1:n.64+317_64+324del
ENST00000637798.1:n.76+317_76+324del
ENST00000674572.1:c.1178+317_1178+324del	ENSP00000501742.1:n.1178+317_1178+324del
ENST00000675090.1:c.1085+317_1085+324del	ENSP00000501833.1:n.1085+317_1085+324del
ENST00000675399.1:c.1085+317_1085+324del	ENSP00000501932.1:n.1085+317_1085+324del
ENST00000676421.1:c.1094+317_1094+324del	ENSP00000502322.1:n.1094+317_1094+324del
ENST00000263604.5:c.1238+317_1238+324del	ENSP00000263604.4:n.1238+317_1238+324del
ENST00000371757.6:c.1337+317_1337+324del	ENSP00000360822.2:n.1337+317_1337+324del
ENST00000460750.5:c.*947+317_*947+324del	ENSP00000418777.1:n.*947+317_*947+324del
ENST00000486577.6:c.1220+317_1220+324del	ENSP00000417578.3:n.1220+317_1220+324del
ENST00000487664.5:c.1337+317_1337+324del	ENSP00000417851.2:n.1337+317_1337+324del
ENST00000488444.6:c.1280+317_1280+324del	ENSP00000419007.3:n.1280+317_1280+324del
ENST00000490355.6:c.1280+317_1280+324del	ENSP00000418003.3:n.1280+317_1280+324del
ENST00000490363.3:n.1156+317_1156+324del
ENST00000491806.6:c.1280+317_1280+324del	ENSP00000419086.3:n.1280+317_1280+324del
ENST00000628528.2:c.1202+317_1202+324del	ENSP00000486374.1:n.1202+317_1202+324del
ENST00000630792.2:c.1178+317_1178+324del	ENSP00000486486.1:n.1178+317_1178+324del
ENST00000631073.2:c.1280+317_1280+324del	ENSP00000486130.1:n.1280+317_1280+324del
NM_001272003.1:c.1202+317_1202+324del	NP_001258932.1:n.1202+317_1202+324del
NM_020822.2:c.1337+317_1337+324del	NP_065873.2:n.1337+317_1337+324del
XM_011518877.1:c.1472+317_1472+324del	XP_011517179.1:n.1472+317_1472+324del
XM_011518878.1:c.1481+317_1481+324del	XP_011517180.1:n.1481+317_1481+324del
XM_011518879.1:c.1472+317_1472+324del	XP_011517181.1:n.1472+317_1472+324del
XM_011518880.1:c.1238+317_1238+324del	XP_011517182.1:n.1238+317_1238+324del
XM_011518881.1:c.827+317_827+324del	XP_011517183.1:n.827+317_827+324del
XM_011518877.3:c.1472+317_1472+324del	XP_011517179.1:n.1472+317_1472+324del
XM_011518878.3:c.1481+317_1481+324del	XP_011517180.1:n.1481+317_1481+324del
XM_011518879.3:c.1472+317_1472+324del	XP_011517181.1:n.1472+317_1472+324del
XM_011518881.3:c.827+317_827+324del	XP_011517183.1:n.827+317_827+324del
XM_017014931.1:c.1271+317_1271+324del	XP_016870420.1:n.1271+317_1271+324del
XM_017014932.1:c.1094+317_1094+324del	XP_016870421.1:n.1094+317_1094+324del
XM_017014933.1:c.827+317_827+324del	XP_016870422.1:n.827+317_827+324del
XM_024447617.1:c.827+317_827+324del	XP_024303385.1:n.827+317_827+324del
XM_024447618.1:c.827+317_827+324del	XP_024303386.1:n.827+317_827+324del
NM_020822.3:c.1337+317_1337+324del MANE Select	NP_065873.2:n.1337+317_1337+324del
NM_001272003.2:c.1202+317_1202+324del	NP_001258932.1:n.1202+317_1202+324del