Canonical Allele Identifier: CA2692518232

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770016-CCACCCTCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770023_135770031del , CM000671.2:g.135770023_135770031del	GRCh38
NC_000009.11:g.138661869_138661877del , CM000671.1:g.138661869_138661877del	GRCh37
NC_000009.10:g.137801690_137801698del	NCBI36
NG_033070.1:g.72839_72847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1587_1595del MANE Select	ENSP00000360822.2:p.Ile530_Leu532del
ENST00000674572.1:c.1428_1436del	ENSP00000501742.1:p.Ile477_Leu479del
ENST00000675090.1:c.1335_1343del	ENSP00000501833.1:p.Ile446_Leu448del
ENST00000675399.1:c.1335_1343del	ENSP00000501932.1:p.Ile446_Leu448del
ENST00000676421.1:c.1344_1352del	ENSP00000502322.1:p.Ile449_Leu451del
ENST00000263604.5:c.1488_1496del	ENSP00000263604.4:p.Ile497_Leu499del
ENST00000371757.6:c.1587_1595del	ENSP00000360822.2:p.Ile530_Leu532del
ENST00000460750.5:c.*1197_*1205del	ENSP00000418777.1:n.*1197_*1205del
ENST00000486577.6:c.1470_1478del	ENSP00000417578.3:p.Ile491_Leu493del
ENST00000487664.5:c.1587_1595del	ENSP00000417851.2:p.Ile530_Leu532del
ENST00000488444.6:c.1530_1538del	ENSP00000419007.3:p.Ile511_Leu513del
ENST00000490355.6:c.1530_1538del	ENSP00000418003.3:p.Ile511_Leu513del
ENST00000490363.3:n.1406_1414del
ENST00000491806.6:c.1530_1538del	ENSP00000419086.3:p.Ile511_Leu513del
ENST00000628528.2:c.1452_1460del	ENSP00000486374.1:p.Ile485_Leu487del
ENST00000630792.2:c.1428_1436del	ENSP00000486486.1:p.Ile477_Leu479del
ENST00000631073.2:c.1530_1538del	ENSP00000486130.1:p.Ile511_Leu513del
NM_001272003.1:c.1452_1460del	NP_001258932.1:p.Ile485_Leu487del
NM_020822.2:c.1587_1595del	NP_065873.2:p.Ile530_Leu532del
XM_011518877.1:c.1722_1730del	XP_011517179.1:p.Ile575_Leu577del
XM_011518878.1:c.1731_1739del	XP_011517180.1:p.Ile578_Leu580del
XM_011518879.1:c.1722_1730del	XP_011517181.1:p.Ile575_Leu577del
XM_011518880.1:c.1488_1496del	XP_011517182.1:p.Ile497_Leu499del
XM_011518881.1:c.1077_1085del	XP_011517183.1:p.Ile360_Leu362del
XM_011518877.3:c.1722_1730del	XP_011517179.1:p.Ile575_Leu577del
XM_011518878.3:c.1731_1739del	XP_011517180.1:p.Ile578_Leu580del
XM_011518879.3:c.1722_1730del	XP_011517181.1:p.Ile575_Leu577del
XM_011518881.3:c.1077_1085del	XP_011517183.1:p.Ile360_Leu362del
XM_017014931.1:c.1521_1529del	XP_016870420.1:p.Ile508_Leu510del
XM_017014932.1:c.1344_1352del	XP_016870421.1:p.Ile449_Leu451del
XM_017014933.1:c.1077_1085del	XP_016870422.1:p.Ile360_Leu362del
XM_024447617.1:c.1077_1085del	XP_024303385.1:p.Ile360_Leu362del
XM_024447618.1:c.1077_1085del	XP_024303386.1:p.Ile360_Leu362del
NM_020822.3:c.1587_1595del MANE Select	NP_065873.2:p.Ile530_Leu532del
NM_001272003.2:c.1452_1460del	NP_001258932.1:p.Ile485_Leu487del