Canonical Allele Identifier: CA591146023

Gene: KCNT1

Linked Data

• dbSNP Id: rs1564369792
• gnomAD v2: 9-138661936-T-TGGCC
• gnomAD v4: 9-135770090-T-TGGCC
• MyVariant Identifiers: chr9:g.138661937_138661938insGCCG (hg19) ; chr9:g.135770091_135770092insGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770093_135770094insCGGC , CM000671.2:g.135770093_135770094insCGGC	GRCh38
NC_000009.11:g.138661939_138661940insCGGC , CM000671.1:g.138661939_138661940insCGGC	GRCh37
NC_000009.10:g.137801760_137801761insCGGC	NCBI36
NG_033070.1:g.72909_72910insCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1619+38_1619+39insCGGC MANE Select	ENSP00000360822.2:n.1619+38_1619+39insCGGC
ENST00000674572.1:c.1460+38_1460+39insCGGC	ENSP00000501742.1:n.1460+38_1460+39insCGGC
ENST00000675090.1:c.1367+38_1367+39insCGGC	ENSP00000501833.1:n.1367+38_1367+39insCGGC
ENST00000675399.1:c.1367+38_1367+39insCGGC	ENSP00000501932.1:n.1367+38_1367+39insCGGC
ENST00000676421.1:c.1376+38_1376+39insCGGC	ENSP00000502322.1:n.1376+38_1376+39insCGGC
ENST00000263604.5:c.1520+38_1520+39insCGGC	ENSP00000263604.4:n.1520+38_1520+39insCGGC
ENST00000371757.6:c.1619+38_1619+39insCGGC	ENSP00000360822.2:n.1619+38_1619+39insCGGC
ENST00000460750.5:c.*1229+38_*1229+39insCGGC	ENSP00000418777.1:n.*1229+38_*1229+39insCGGC
ENST00000486577.6:c.1502+38_1502+39insCGGC	ENSP00000417578.3:n.1502+38_1502+39insCGGC
ENST00000487664.5:c.1619+38_1619+39insCGGC	ENSP00000417851.2:n.1619+38_1619+39insCGGC
ENST00000488444.6:c.1562+38_1562+39insCGGC	ENSP00000419007.3:n.1562+38_1562+39insCGGC
ENST00000490355.6:c.1562+38_1562+39insCGGC	ENSP00000418003.3:n.1562+38_1562+39insCGGC
ENST00000490363.3:n.1438+38_1438+39insCGGC
ENST00000491806.6:c.1562+38_1562+39insCGGC	ENSP00000419086.3:n.1562+38_1562+39insCGGC
ENST00000628528.2:c.1484+38_1484+39insCGGC	ENSP00000486374.1:n.1484+38_1484+39insCGGC
ENST00000630792.2:c.1460+38_1460+39insCGGC	ENSP00000486486.1:n.1460+38_1460+39insCGGC
ENST00000631073.2:c.1562+38_1562+39insCGGC	ENSP00000486130.1:n.1562+38_1562+39insCGGC
NM_001272003.1:c.1484+38_1484+39insCGGC	NP_001258932.1:n.1484+38_1484+39insCGGC
NM_020822.2:c.1619+38_1619+39insCGGC	NP_065873.2:n.1619+38_1619+39insCGGC
XM_011518877.1:c.1754+38_1754+39insCGGC	XP_011517179.1:n.1754+38_1754+39insCGGC
XM_011518878.1:c.1763+38_1763+39insCGGC	XP_011517180.1:n.1763+38_1763+39insCGGC
XM_011518879.1:c.1754+38_1754+39insCGGC	XP_011517181.1:n.1754+38_1754+39insCGGC
XM_011518880.1:c.1520+38_1520+39insCGGC	XP_011517182.1:n.1520+38_1520+39insCGGC
XM_011518881.1:c.1109+38_1109+39insCGGC	XP_011517183.1:n.1109+38_1109+39insCGGC
XM_011518877.3:c.1754+38_1754+39insCGGC	XP_011517179.1:n.1754+38_1754+39insCGGC
XM_011518878.3:c.1763+38_1763+39insCGGC	XP_011517180.1:n.1763+38_1763+39insCGGC
XM_011518879.3:c.1754+38_1754+39insCGGC	XP_011517181.1:n.1754+38_1754+39insCGGC
XM_011518881.3:c.1109+38_1109+39insCGGC	XP_011517183.1:n.1109+38_1109+39insCGGC
XM_017014931.1:c.1553+38_1553+39insCGGC	XP_016870420.1:n.1553+38_1553+39insCGGC
XM_017014932.1:c.1376+38_1376+39insCGGC	XP_016870421.1:n.1376+38_1376+39insCGGC
XM_017014933.1:c.1109+38_1109+39insCGGC	XP_016870422.1:n.1109+38_1109+39insCGGC
XM_024447617.1:c.1109+38_1109+39insCGGC	XP_024303385.1:n.1109+38_1109+39insCGGC
XM_024447618.1:c.1109+38_1109+39insCGGC	XP_024303386.1:n.1109+38_1109+39insCGGC
NM_020822.3:c.1619+38_1619+39insCGGC MANE Select	NP_065873.2:n.1619+38_1619+39insCGGC
NM_001272003.2:c.1484+38_1484+39insCGGC	NP_001258932.1:n.1484+38_1484+39insCGGC