Canonical Allele Identifier: CA591146005

Gene: KCNT1

Linked Data

• dbSNP Id: rs1390731617
• gnomAD v2: 9-138661862-C-CCACCCTCAT
• gnomAD v4: 9-135770016-C-CCACCCTCAT
• MyVariant Identifiers: chr9:g.138661862_138661863insCACCCTCAT (hg19) ; chr9:g.135770016_135770017insCACCCTCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770023_135770031dup , CM000671.2:g.135770023_135770031dup	GRCh38
NC_000009.11:g.138661869_138661877dup , CM000671.1:g.138661869_138661877dup	GRCh37
NC_000009.10:g.137801690_137801698dup	NCBI36
NG_033070.1:g.72839_72847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1587_1595dup MANE Select	ENSP00000360822.2:p.Leu532_Leu533insIleThrLeu
ENST00000674572.1:c.1428_1436dup	ENSP00000501742.1:p.Leu479_Leu480insIleThrLeu
ENST00000675090.1:c.1335_1343dup	ENSP00000501833.1:p.Leu448_Leu449insIleThrLeu
ENST00000675399.1:c.1335_1343dup	ENSP00000501932.1:p.Leu448_Leu449insIleThrLeu
ENST00000676421.1:c.1344_1352dup	ENSP00000502322.1:p.Leu451_Leu452insIleThrLeu
ENST00000263604.5:c.1488_1496dup	ENSP00000263604.4:p.Leu499_Leu500insIleThrLeu
ENST00000371757.6:c.1587_1595dup	ENSP00000360822.2:p.Leu532_Leu533insIleThrLeu
ENST00000460750.5:c.*1197_*1205dup	ENSP00000418777.1:n.*1197_*1205dup
ENST00000486577.6:c.1470_1478dup	ENSP00000417578.3:p.Leu493_Leu494insIleThrLeu
ENST00000487664.5:c.1587_1595dup	ENSP00000417851.2:p.Leu532_Leu533insIleThrLeu
ENST00000488444.6:c.1530_1538dup	ENSP00000419007.3:p.Leu513_Leu514insIleThrLeu
ENST00000490355.6:c.1530_1538dup	ENSP00000418003.3:p.Leu513_Leu514insIleThrLeu
ENST00000490363.3:n.1406_1414dup
ENST00000491806.6:c.1530_1538dup	ENSP00000419086.3:p.Leu513_Leu514insIleThrLeu
ENST00000628528.2:c.1452_1460dup	ENSP00000486374.1:p.Leu487_Leu488insIleThrLeu
ENST00000630792.2:c.1428_1436dup	ENSP00000486486.1:p.Leu479_Leu480insIleThrLeu
ENST00000631073.2:c.1530_1538dup	ENSP00000486130.1:p.Leu513_Leu514insIleThrLeu
NM_001272003.1:c.1452_1460dup	NP_001258932.1:p.Leu487_Leu488insIleThrLeu
NM_020822.2:c.1587_1595dup	NP_065873.2:p.Leu532_Leu533insIleThrLeu
XM_011518877.1:c.1722_1730dup	XP_011517179.1:p.Leu577_Leu578insIleThrLeu
XM_011518878.1:c.1731_1739dup	XP_011517180.1:p.Leu580_Leu581insIleThrLeu
XM_011518879.1:c.1722_1730dup	XP_011517181.1:p.Leu577_Leu578insIleThrLeu
XM_011518880.1:c.1488_1496dup	XP_011517182.1:p.Leu499_Leu500insIleThrLeu
XM_011518881.1:c.1077_1085dup	XP_011517183.1:p.Leu362_Leu363insIleThrLeu
XM_011518877.3:c.1722_1730dup	XP_011517179.1:p.Leu577_Leu578insIleThrLeu
XM_011518878.3:c.1731_1739dup	XP_011517180.1:p.Leu580_Leu581insIleThrLeu
XM_011518879.3:c.1722_1730dup	XP_011517181.1:p.Leu577_Leu578insIleThrLeu
XM_011518881.3:c.1077_1085dup	XP_011517183.1:p.Leu362_Leu363insIleThrLeu
XM_017014931.1:c.1521_1529dup	XP_016870420.1:p.Leu510_Leu511insIleThrLeu
XM_017014932.1:c.1344_1352dup	XP_016870421.1:p.Leu451_Leu452insIleThrLeu
XM_017014933.1:c.1077_1085dup	XP_016870422.1:p.Leu362_Leu363insIleThrLeu
XM_024447617.1:c.1077_1085dup	XP_024303385.1:p.Leu362_Leu363insIleThrLeu
XM_024447618.1:c.1077_1085dup	XP_024303386.1:p.Leu362_Leu363insIleThrLeu
NM_020822.3:c.1587_1595dup MANE Select	NP_065873.2:p.Leu532_Leu533insIleThrLeu
NM_001272003.2:c.1452_1460dup	NP_001258932.1:p.Leu487_Leu488insIleThrLeu