Canonical Allele Identifier: CA860988726

Gene: KCNT1

Linked Data

• dbSNP Id: rs1308700781
• gnomAD v4: 9-135770486-G-GCTGCT
• MyVariant Identifiers: chr9:g.138662332_138662333insCTGCT (hg19) ; chr9:g.135770486_135770487insCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770495_135770499dup , CM000671.2:g.135770495_135770499dup	GRCh38
NC_000009.11:g.138662341_138662345dup , CM000671.1:g.138662341_138662345dup	GRCh37
NC_000009.10:g.137802162_137802166dup	NCBI36
NG_033070.1:g.73311_73315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1769+48_1769+52dup MANE Select	ENSP00000360822.2:n.1769+48_1769+52dup
ENST00000674572.1:c.1610+48_1610+52dup	ENSP00000501742.1:n.1610+48_1610+52dup
ENST00000675090.1:c.1517+48_1517+52dup	ENSP00000501833.1:n.1517+48_1517+52dup
ENST00000675399.1:c.1517+48_1517+52dup	ENSP00000501932.1:n.1517+48_1517+52dup
ENST00000676421.1:c.1526+48_1526+52dup	ENSP00000502322.1:n.1526+48_1526+52dup
ENST00000263604.5:c.1670+48_1670+52dup	ENSP00000263604.4:n.1670+48_1670+52dup
ENST00000371757.6:c.1769+48_1769+52dup	ENSP00000360822.2:n.1769+48_1769+52dup
ENST00000460750.5:c.*1379+48_*1379+52dup	ENSP00000418777.1:n.*1379+48_*1379+52dup
ENST00000486577.6:c.1652+48_1652+52dup	ENSP00000417578.3:n.1652+48_1652+52dup
ENST00000487664.5:c.1769+48_1769+52dup	ENSP00000417851.2:n.1769+48_1769+52dup
ENST00000488444.6:c.1712+48_1712+52dup	ENSP00000419007.3:n.1712+48_1712+52dup
ENST00000490355.6:c.1712+48_1712+52dup	ENSP00000418003.3:n.1712+48_1712+52dup
ENST00000490363.3:n.1588+48_1588+52dup
ENST00000491806.6:c.1712+48_1712+52dup	ENSP00000419086.3:n.1712+48_1712+52dup
ENST00000628528.2:c.1634+48_1634+52dup	ENSP00000486374.1:n.1634+48_1634+52dup
ENST00000630792.2:c.1610+48_1610+52dup	ENSP00000486486.1:n.1610+48_1610+52dup
ENST00000631073.2:c.1712+48_1712+52dup	ENSP00000486130.1:n.1712+48_1712+52dup
NM_001272003.1:c.1634+48_1634+52dup	NP_001258932.1:n.1634+48_1634+52dup
NM_020822.2:c.1769+48_1769+52dup	NP_065873.2:n.1769+48_1769+52dup
XM_011518877.1:c.1904+48_1904+52dup	XP_011517179.1:n.1904+48_1904+52dup
XM_011518878.1:c.1913+48_1913+52dup	XP_011517180.1:n.1913+48_1913+52dup
XM_011518879.1:c.1904+48_1904+52dup	XP_011517181.1:n.1904+48_1904+52dup
XM_011518880.1:c.1670+48_1670+52dup	XP_011517182.1:n.1670+48_1670+52dup
XM_011518881.1:c.1259+48_1259+52dup	XP_011517183.1:n.1259+48_1259+52dup
XM_011518877.3:c.1904+48_1904+52dup	XP_011517179.1:n.1904+48_1904+52dup
XM_011518878.3:c.1913+48_1913+52dup	XP_011517180.1:n.1913+48_1913+52dup
XM_011518879.3:c.1904+48_1904+52dup	XP_011517181.1:n.1904+48_1904+52dup
XM_011518881.3:c.1259+48_1259+52dup	XP_011517183.1:n.1259+48_1259+52dup
XM_017014931.1:c.1703+48_1703+52dup	XP_016870420.1:n.1703+48_1703+52dup
XM_017014932.1:c.1526+48_1526+52dup	XP_016870421.1:n.1526+48_1526+52dup
XM_017014933.1:c.1259+48_1259+52dup	XP_016870422.1:n.1259+48_1259+52dup
XM_024447617.1:c.1259+48_1259+52dup	XP_024303385.1:n.1259+48_1259+52dup
XM_024447618.1:c.1259+48_1259+52dup	XP_024303386.1:n.1259+48_1259+52dup
NM_020822.3:c.1769+48_1769+52dup MANE Select	NP_065873.2:n.1769+48_1769+52dup
NM_001272003.2:c.1634+48_1634+52dup	NP_001258932.1:n.1634+48_1634+52dup