Canonical Allele Identifier: CA591364846

Gene: KCNT1

Linked Data

• dbSNP Id: rs1564370607
• gnomAD v2: 9-138662355-C-CACCCTCCCG
• gnomAD v3: 9-135770509-C-CACCCTCCCG
• gnomAD v4: 9-135770509-C-CACCCTCCCG
• MyVariant Identifiers: chr9:g.138662355_138662356insACCCTCCCG (hg19) ; chr9:g.135770509_135770510insACCCTCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770510_135770518dup , CM000671.2:g.135770510_135770518dup	GRCh38
NC_000009.11:g.138662356_138662364dup , CM000671.1:g.138662356_138662364dup	GRCh37
NC_000009.10:g.137802177_137802185dup	NCBI36
NG_033070.1:g.73326_73334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1769+63_1769+71dup MANE Select	ENSP00000360822.2:n.1769+63_1769+71dup
ENST00000674572.1:c.1610+63_1610+71dup	ENSP00000501742.1:n.1610+63_1610+71dup
ENST00000675090.1:c.1517+63_1517+71dup	ENSP00000501833.1:n.1517+63_1517+71dup
ENST00000675399.1:c.1517+63_1517+71dup	ENSP00000501932.1:n.1517+63_1517+71dup
ENST00000676421.1:c.1526+63_1526+71dup	ENSP00000502322.1:n.1526+63_1526+71dup
ENST00000263604.5:c.1670+63_1670+71dup	ENSP00000263604.4:n.1670+63_1670+71dup
ENST00000371757.6:c.1769+63_1769+71dup	ENSP00000360822.2:n.1769+63_1769+71dup
ENST00000460750.5:c.*1379+63_*1379+71dup	ENSP00000418777.1:n.*1379+63_*1379+71dup
ENST00000486577.6:c.1652+63_1652+71dup	ENSP00000417578.3:n.1652+63_1652+71dup
ENST00000487664.5:c.1769+63_1769+71dup	ENSP00000417851.2:n.1769+63_1769+71dup
ENST00000488444.6:c.1712+63_1712+71dup	ENSP00000419007.3:n.1712+63_1712+71dup
ENST00000490355.6:c.1712+63_1712+71dup	ENSP00000418003.3:n.1712+63_1712+71dup
ENST00000490363.3:n.1588+63_1588+71dup
ENST00000491806.6:c.1712+63_1712+71dup	ENSP00000419086.3:n.1712+63_1712+71dup
ENST00000628528.2:c.1634+63_1634+71dup	ENSP00000486374.1:n.1634+63_1634+71dup
ENST00000630792.2:c.1610+63_1610+71dup	ENSP00000486486.1:n.1610+63_1610+71dup
ENST00000631073.2:c.1712+63_1712+71dup	ENSP00000486130.1:n.1712+63_1712+71dup
NM_001272003.1:c.1634+63_1634+71dup	NP_001258932.1:n.1634+63_1634+71dup
NM_020822.2:c.1769+63_1769+71dup	NP_065873.2:n.1769+63_1769+71dup
XM_011518877.1:c.1904+63_1904+71dup	XP_011517179.1:n.1904+63_1904+71dup
XM_011518878.1:c.1913+63_1913+71dup	XP_011517180.1:n.1913+63_1913+71dup
XM_011518879.1:c.1904+63_1904+71dup	XP_011517181.1:n.1904+63_1904+71dup
XM_011518880.1:c.1670+63_1670+71dup	XP_011517182.1:n.1670+63_1670+71dup
XM_011518881.1:c.1259+63_1259+71dup	XP_011517183.1:n.1259+63_1259+71dup
XM_011518877.3:c.1904+63_1904+71dup	XP_011517179.1:n.1904+63_1904+71dup
XM_011518878.3:c.1913+63_1913+71dup	XP_011517180.1:n.1913+63_1913+71dup
XM_011518879.3:c.1904+63_1904+71dup	XP_011517181.1:n.1904+63_1904+71dup
XM_011518881.3:c.1259+63_1259+71dup	XP_011517183.1:n.1259+63_1259+71dup
XM_017014931.1:c.1703+63_1703+71dup	XP_016870420.1:n.1703+63_1703+71dup
XM_017014932.1:c.1526+63_1526+71dup	XP_016870421.1:n.1526+63_1526+71dup
XM_017014933.1:c.1259+63_1259+71dup	XP_016870422.1:n.1259+63_1259+71dup
XM_024447617.1:c.1259+63_1259+71dup	XP_024303385.1:n.1259+63_1259+71dup
XM_024447618.1:c.1259+63_1259+71dup	XP_024303386.1:n.1259+63_1259+71dup
NM_020822.3:c.1769+63_1769+71dup MANE Select	NP_065873.2:n.1769+63_1769+71dup
NM_001272003.2:c.1634+63_1634+71dup	NP_001258932.1:n.1634+63_1634+71dup