Canonical Allele Identifier: CA2692518948

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770503-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770503_135770504insTGT , CM000671.2:g.135770503_135770504insTGT	GRCh38
NC_000009.11:g.138662349_138662350insTGT , CM000671.1:g.138662349_138662350insTGT	GRCh37
NC_000009.10:g.137802170_137802171insTGT	NCBI36
NG_033070.1:g.73319_73320insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1769+56_1769+57insTGT MANE Select	ENSP00000360822.2:n.1769+56_1769+57insTGT
ENST00000674572.1:c.1610+56_1610+57insTGT	ENSP00000501742.1:n.1610+56_1610+57insTGT
ENST00000675090.1:c.1517+56_1517+57insTGT	ENSP00000501833.1:n.1517+56_1517+57insTGT
ENST00000675399.1:c.1517+56_1517+57insTGT	ENSP00000501932.1:n.1517+56_1517+57insTGT
ENST00000676421.1:c.1526+56_1526+57insTGT	ENSP00000502322.1:n.1526+56_1526+57insTGT
ENST00000263604.5:c.1670+56_1670+57insTGT	ENSP00000263604.4:n.1670+56_1670+57insTGT
ENST00000371757.6:c.1769+56_1769+57insTGT	ENSP00000360822.2:n.1769+56_1769+57insTGT
ENST00000460750.5:c.*1379+56_*1379+57insTGT	ENSP00000418777.1:n.*1379+56_*1379+57insTGT
ENST00000486577.6:c.1652+56_1652+57insTGT	ENSP00000417578.3:n.1652+56_1652+57insTGT
ENST00000487664.5:c.1769+56_1769+57insTGT	ENSP00000417851.2:n.1769+56_1769+57insTGT
ENST00000488444.6:c.1712+56_1712+57insTGT	ENSP00000419007.3:n.1712+56_1712+57insTGT
ENST00000490355.6:c.1712+56_1712+57insTGT	ENSP00000418003.3:n.1712+56_1712+57insTGT
ENST00000490363.3:n.1588+56_1588+57insTGT
ENST00000491806.6:c.1712+56_1712+57insTGT	ENSP00000419086.3:n.1712+56_1712+57insTGT
ENST00000628528.2:c.1634+56_1634+57insTGT	ENSP00000486374.1:n.1634+56_1634+57insTGT
ENST00000630792.2:c.1610+56_1610+57insTGT	ENSP00000486486.1:n.1610+56_1610+57insTGT
ENST00000631073.2:c.1712+56_1712+57insTGT	ENSP00000486130.1:n.1712+56_1712+57insTGT
NM_001272003.1:c.1634+56_1634+57insTGT	NP_001258932.1:n.1634+56_1634+57insTGT
NM_020822.2:c.1769+56_1769+57insTGT	NP_065873.2:n.1769+56_1769+57insTGT
XM_011518877.1:c.1904+56_1904+57insTGT	XP_011517179.1:n.1904+56_1904+57insTGT
XM_011518878.1:c.1913+56_1913+57insTGT	XP_011517180.1:n.1913+56_1913+57insTGT
XM_011518879.1:c.1904+56_1904+57insTGT	XP_011517181.1:n.1904+56_1904+57insTGT
XM_011518880.1:c.1670+56_1670+57insTGT	XP_011517182.1:n.1670+56_1670+57insTGT
XM_011518881.1:c.1259+56_1259+57insTGT	XP_011517183.1:n.1259+56_1259+57insTGT
XM_011518877.3:c.1904+56_1904+57insTGT	XP_011517179.1:n.1904+56_1904+57insTGT
XM_011518878.3:c.1913+56_1913+57insTGT	XP_011517180.1:n.1913+56_1913+57insTGT
XM_011518879.3:c.1904+56_1904+57insTGT	XP_011517181.1:n.1904+56_1904+57insTGT
XM_011518881.3:c.1259+56_1259+57insTGT	XP_011517183.1:n.1259+56_1259+57insTGT
XM_017014931.1:c.1703+56_1703+57insTGT	XP_016870420.1:n.1703+56_1703+57insTGT
XM_017014932.1:c.1526+56_1526+57insTGT	XP_016870421.1:n.1526+56_1526+57insTGT
XM_017014933.1:c.1259+56_1259+57insTGT	XP_016870422.1:n.1259+56_1259+57insTGT
XM_024447617.1:c.1259+56_1259+57insTGT	XP_024303385.1:n.1259+56_1259+57insTGT
XM_024447618.1:c.1259+56_1259+57insTGT	XP_024303386.1:n.1259+56_1259+57insTGT
NM_020822.3:c.1769+56_1769+57insTGT MANE Select	NP_065873.2:n.1769+56_1769+57insTGT
NM_001272003.2:c.1634+56_1634+57insTGT	NP_001258932.1:n.1634+56_1634+57insTGT