Canonical Allele Identifier: CA2692516716

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765772-TGGGCGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765776_135765783del , CM000671.2:g.135765776_135765783del	GRCh38
NC_000009.11:g.138657622_138657629del , CM000671.1:g.138657622_138657629del	GRCh37
NC_000009.10:g.137797443_137797450del	NCBI36
NG_033070.1:g.68592_68599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+16_1337+23del MANE Select	ENSP00000360822.2:n.1337+16_1337+23del
ENST00000636003.1:c.27+16_27+23del
ENST00000636995.1:n.64+16_64+23del
ENST00000637798.1:n.76+16_76+23del
ENST00000674572.1:c.1178+16_1178+23del	ENSP00000501742.1:n.1178+16_1178+23del
ENST00000675090.1:c.1085+16_1085+23del	ENSP00000501833.1:n.1085+16_1085+23del
ENST00000675399.1:c.1085+16_1085+23del	ENSP00000501932.1:n.1085+16_1085+23del
ENST00000676421.1:c.1094+16_1094+23del	ENSP00000502322.1:n.1094+16_1094+23del
ENST00000263604.5:c.1238+16_1238+23del	ENSP00000263604.4:n.1238+16_1238+23del
ENST00000371757.6:c.1337+16_1337+23del	ENSP00000360822.2:n.1337+16_1337+23del
ENST00000460750.5:c.*947+16_*947+23del	ENSP00000418777.1:n.*947+16_*947+23del
ENST00000486577.6:c.1220+16_1220+23del	ENSP00000417578.3:n.1220+16_1220+23del
ENST00000487664.5:c.1337+16_1337+23del	ENSP00000417851.2:n.1337+16_1337+23del
ENST00000488444.6:c.1280+16_1280+23del	ENSP00000419007.3:n.1280+16_1280+23del
ENST00000490355.6:c.1280+16_1280+23del	ENSP00000418003.3:n.1280+16_1280+23del
ENST00000490363.3:n.1156+16_1156+23del
ENST00000491806.6:c.1280+16_1280+23del	ENSP00000419086.3:n.1280+16_1280+23del
ENST00000628528.2:c.1202+16_1202+23del	ENSP00000486374.1:n.1202+16_1202+23del
ENST00000630792.2:c.1178+16_1178+23del	ENSP00000486486.1:n.1178+16_1178+23del
ENST00000631073.2:c.1280+16_1280+23del	ENSP00000486130.1:n.1280+16_1280+23del
NM_001272003.1:c.1202+16_1202+23del	NP_001258932.1:n.1202+16_1202+23del
NM_020822.2:c.1337+16_1337+23del	NP_065873.2:n.1337+16_1337+23del
XM_011518877.1:c.1472+16_1472+23del	XP_011517179.1:n.1472+16_1472+23del
XM_011518878.1:c.1481+16_1481+23del	XP_011517180.1:n.1481+16_1481+23del
XM_011518879.1:c.1472+16_1472+23del	XP_011517181.1:n.1472+16_1472+23del
XM_011518880.1:c.1238+16_1238+23del	XP_011517182.1:n.1238+16_1238+23del
XM_011518881.1:c.827+16_827+23del	XP_011517183.1:n.827+16_827+23del
XM_011518877.3:c.1472+16_1472+23del	XP_011517179.1:n.1472+16_1472+23del
XM_011518878.3:c.1481+16_1481+23del	XP_011517180.1:n.1481+16_1481+23del
XM_011518879.3:c.1472+16_1472+23del	XP_011517181.1:n.1472+16_1472+23del
XM_011518881.3:c.827+16_827+23del	XP_011517183.1:n.827+16_827+23del
XM_017014931.1:c.1271+16_1271+23del	XP_016870420.1:n.1271+16_1271+23del
XM_017014932.1:c.1094+16_1094+23del	XP_016870421.1:n.1094+16_1094+23del
XM_017014933.1:c.827+16_827+23del	XP_016870422.1:n.827+16_827+23del
XM_024447617.1:c.827+16_827+23del	XP_024303385.1:n.827+16_827+23del
XM_024447618.1:c.827+16_827+23del	XP_024303386.1:n.827+16_827+23del
NM_020822.3:c.1337+16_1337+23del MANE Select	NP_065873.2:n.1337+16_1337+23del
NM_001272003.2:c.1202+16_1202+23del	NP_001258932.1:n.1202+16_1202+23del