Canonical Allele Identifier: CA2692518243

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770038-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770042_135770043del , CM000671.2:g.135770042_135770043del	GRCh38
NC_000009.11:g.138661888_138661889del , CM000671.1:g.138661888_138661889del	GRCh37
NC_000009.10:g.137801709_137801710del	NCBI36
NG_033070.1:g.72858_72859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1606_1607del MANE Select	ENSP00000360822.2:p.Thr536ValfsTer?
ENST00000674572.1:c.1447_1448del	ENSP00000501742.1:p.Thr483ValfsTer?
ENST00000675090.1:c.1354_1355del	ENSP00000501833.1:p.Thr452ValfsTer?
ENST00000675399.1:c.1354_1355del	ENSP00000501932.1:p.Thr452ValfsTer?
ENST00000676421.1:c.1363_1364del	ENSP00000502322.1:p.Thr455ValfsTer?
ENST00000263604.5:c.1507_1508del	ENSP00000263604.4:p.Thr503ValfsTer?
ENST00000371757.6:c.1606_1607del	ENSP00000360822.2:p.Thr536ValfsTer?
ENST00000460750.5:c.*1216_*1217del	ENSP00000418777.1:n.*1216_*1217del
ENST00000486577.6:c.1489_1490del	ENSP00000417578.3:p.Thr497ValfsTer?
ENST00000487664.5:c.1606_1607del	ENSP00000417851.2:p.Thr536ValfsTer?
ENST00000488444.6:c.1549_1550del	ENSP00000419007.3:p.Thr517ValfsTer?
ENST00000490355.6:c.1549_1550del	ENSP00000418003.3:p.Thr517ValfsTer?
ENST00000490363.3:n.1425_1426del
ENST00000491806.6:c.1549_1550del	ENSP00000419086.3:p.Thr517ValfsTer?
ENST00000628528.2:c.1471_1472del	ENSP00000486374.1:p.Thr491ValfsTer?
ENST00000630792.2:c.1447_1448del	ENSP00000486486.1:p.Thr483ValfsTer?
ENST00000631073.2:c.1549_1550del	ENSP00000486130.1:p.Thr517ValfsTer?
NM_001272003.1:c.1471_1472del	NP_001258932.1:p.Thr491ValfsTer?
NM_020822.2:c.1606_1607del	NP_065873.2:p.Thr536ValfsTer?
XM_011518877.1:c.1741_1742del	XP_011517179.1:p.Thr581ValfsTer?
XM_011518878.1:c.1750_1751del	XP_011517180.1:p.Thr584ValfsTer?
XM_011518879.1:c.1741_1742del	XP_011517181.1:p.Thr581ValfsTer?
XM_011518880.1:c.1507_1508del	XP_011517182.1:p.Thr503ValfsTer?
XM_011518881.1:c.1096_1097del	XP_011517183.1:p.Thr366ValfsTer?
XM_011518877.3:c.1741_1742del	XP_011517179.1:p.Thr581ValfsTer?
XM_011518878.3:c.1750_1751del	XP_011517180.1:p.Thr584ValfsTer?
XM_011518879.3:c.1741_1742del	XP_011517181.1:p.Thr581ValfsTer?
XM_011518881.3:c.1096_1097del	XP_011517183.1:p.Thr366ValfsTer?
XM_017014931.1:c.1540_1541del	XP_016870420.1:p.Thr514ValfsTer?
XM_017014932.1:c.1363_1364del	XP_016870421.1:p.Thr455ValfsTer?
XM_017014933.1:c.1096_1097del	XP_016870422.1:p.Thr366ValfsTer?
XM_024447617.1:c.1096_1097del	XP_024303385.1:p.Thr366ValfsTer?
XM_024447618.1:c.1096_1097del	XP_024303386.1:p.Thr366ValfsTer?
NM_020822.3:c.1606_1607del MANE Select	NP_065873.2:p.Thr536ValfsTer?
NM_001272003.2:c.1471_1472del	NP_001258932.1:p.Thr491ValfsTer?