Canonical Allele Identifier: CA2579510947

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770505-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770509del , CM000671.2:g.135770509del	GRCh38
NC_000009.11:g.138662355del , CM000671.1:g.138662355del	GRCh37
NC_000009.10:g.137802176del	NCBI36
NG_033070.1:g.73325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1769+62del MANE Select	ENSP00000360822.2:n.1769+62del
ENST00000674572.1:c.1610+62del	ENSP00000501742.1:n.1610+62del
ENST00000675090.1:c.1517+62del	ENSP00000501833.1:n.1517+62del
ENST00000675399.1:c.1517+62del	ENSP00000501932.1:n.1517+62del
ENST00000676421.1:c.1526+62del	ENSP00000502322.1:n.1526+62del
ENST00000263604.5:c.1670+62del	ENSP00000263604.4:n.1670+62del
ENST00000371757.6:c.1769+62del	ENSP00000360822.2:n.1769+62del
ENST00000460750.5:c.*1379+62del	ENSP00000418777.1:n.*1379+62del
ENST00000486577.6:c.1652+62del	ENSP00000417578.3:n.1652+62del
ENST00000487664.5:c.1769+62del	ENSP00000417851.2:n.1769+62del
ENST00000488444.6:c.1712+62del	ENSP00000419007.3:n.1712+62del
ENST00000490355.6:c.1712+62del	ENSP00000418003.3:n.1712+62del
ENST00000490363.3:n.1588+62del
ENST00000491806.6:c.1712+62del	ENSP00000419086.3:n.1712+62del
ENST00000628528.2:c.1634+62del	ENSP00000486374.1:n.1634+62del
ENST00000630792.2:c.1610+62del	ENSP00000486486.1:n.1610+62del
ENST00000631073.2:c.1712+62del	ENSP00000486130.1:n.1712+62del
NM_001272003.1:c.1634+62del	NP_001258932.1:n.1634+62del
NM_020822.2:c.1769+62del	NP_065873.2:n.1769+62del
XM_011518877.1:c.1904+62del	XP_011517179.1:n.1904+62del
XM_011518878.1:c.1913+62del	XP_011517180.1:n.1913+62del
XM_011518879.1:c.1904+62del	XP_011517181.1:n.1904+62del
XM_011518880.1:c.1670+62del	XP_011517182.1:n.1670+62del
XM_011518881.1:c.1259+62del	XP_011517183.1:n.1259+62del
XM_011518877.3:c.1904+62del	XP_011517179.1:n.1904+62del
XM_011518878.3:c.1913+62del	XP_011517180.1:n.1913+62del
XM_011518879.3:c.1904+62del	XP_011517181.1:n.1904+62del
XM_011518881.3:c.1259+62del	XP_011517183.1:n.1259+62del
XM_017014931.1:c.1703+62del	XP_016870420.1:n.1703+62del
XM_017014932.1:c.1526+62del	XP_016870421.1:n.1526+62del
XM_017014933.1:c.1259+62del	XP_016870422.1:n.1259+62del
XM_024447617.1:c.1259+62del	XP_024303385.1:n.1259+62del
XM_024447618.1:c.1259+62del	XP_024303386.1:n.1259+62del
NM_020822.3:c.1769+62del MANE Select	NP_065873.2:n.1769+62del
NM_001272003.2:c.1634+62del	NP_001258932.1:n.1634+62del