Canonical Allele Identifier: CA2579511304

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775500-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775503del , CM000671.2:g.135775503del	GRCh38
NC_000009.11:g.138667349del , CM000671.1:g.138667349del	GRCh37
NC_000009.10:g.137807170del	NCBI36
NG_033070.1:g.78319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2349+88del MANE Select	ENSP00000360822.2:n.2349+88del
ENST00000674572.1:c.2190+88del	ENSP00000501742.1:n.2190+88del
ENST00000675090.1:c.2097+88del	ENSP00000501833.1:n.2097+88del
ENST00000675399.1:c.2097+88del	ENSP00000501932.1:n.2097+88del
ENST00000676421.1:c.2106+88del	ENSP00000502322.1:n.2106+88del
ENST00000263604.5:c.2250+88del	ENSP00000263604.4:n.2250+88del
ENST00000371757.6:c.2349+88del	ENSP00000360822.2:n.2349+88del
ENST00000460750.5:c.*1959+88del	ENSP00000418777.1:n.*1959+88del
ENST00000486577.6:c.2232+88del	ENSP00000417578.3:n.2232+88del
ENST00000487664.5:c.2349+88del	ENSP00000417851.2:n.2349+88del
ENST00000488444.6:c.2292+88del	ENSP00000419007.3:n.2292+88del
ENST00000490355.6:c.2286+88del	ENSP00000418003.3:n.2286+88del
ENST00000490363.3:n.2168+88del
ENST00000491806.6:c.2292+88del	ENSP00000419086.3:n.2292+88del
ENST00000628528.2:c.2214+88del	ENSP00000486374.1:n.2214+88del
ENST00000630792.2:c.2184+88del	ENSP00000486486.1:n.2184+88del
ENST00000631073.2:c.2292+88del	ENSP00000486130.1:n.2292+88del
ENST00000631193.1:c.198+88del	ENSP00000486830.1:n.198+88del
NM_001272003.1:c.2214+88del	NP_001258932.1:n.2214+88del
NM_020822.2:c.2349+88del	NP_065873.2:n.2349+88del
XM_011518877.1:c.2484+88del	XP_011517179.1:n.2484+88del
XM_011518878.1:c.2493+88del	XP_011517180.1:n.2493+88del
XM_011518879.1:c.2484+88del	XP_011517181.1:n.2484+88del
XM_011518880.1:c.2250+88del	XP_011517182.1:n.2250+88del
XM_011518881.1:c.1839+88del	XP_011517183.1:n.1839+88del
XM_011518877.3:c.2484+88del	XP_011517179.1:n.2484+88del
XM_011518878.3:c.2493+88del	XP_011517180.1:n.2493+88del
XM_011518879.3:c.2484+88del	XP_011517181.1:n.2484+88del
XM_011518881.3:c.1839+88del	XP_011517183.1:n.1839+88del
XM_017014931.1:c.2283+88del	XP_016870420.1:n.2283+88del
XM_017014932.1:c.2106+88del	XP_016870421.1:n.2106+88del
XM_017014933.1:c.1839+88del	XP_016870422.1:n.1839+88del
XM_024447617.1:c.1839+88del	XP_024303385.1:n.1839+88del
XM_024447618.1:c.1839+88del	XP_024303386.1:n.1839+88del
NM_020822.3:c.2349+88del MANE Select	NP_065873.2:n.2349+88del
NM_001272003.2:c.2214+88del	NP_001258932.1:n.2214+88del