Canonical Allele Identifier: CA1883872403

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769960_135769963delinsTGAG , CM000671.2:g.135769960_135769963delinsTGAG	GRCh38
NC_000009.11:g.138661806_138661809delinsTGAG , CM000671.1:g.138661806_138661809delinsTGAG	GRCh37
NC_000009.10:g.137801627_137801630delinsTGAG	NCBI36
NG_033070.1:g.72776_72779delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1524_1527delinsTGAG MANE Select	ENSP00000360822.2:p.Cys508=
ENST00000674572.1:c.1365_1368delinsTGAG	ENSP00000501742.1:p.Cys455=
ENST00000675090.1:c.1272_1275delinsTGAG	ENSP00000501833.1:p.Cys424=
ENST00000675399.1:c.1272_1275delinsTGAG	ENSP00000501932.1:p.Cys424=
ENST00000676421.1:c.1281_1284delinsTGAG	ENSP00000502322.1:p.Cys427=
ENST00000263604.5:c.1425_1428delinsTGAG	ENSP00000263604.4:p.Cys475=
ENST00000371757.6:c.1524_1527delinsTGAG	ENSP00000360822.2:p.Cys508=
ENST00000460750.5:c.*1134_*1137delinsTGAG	ENSP00000418777.1:n.*1134_*1137delinsTGAG
ENST00000486577.6:c.1407_1410delinsTGAG	ENSP00000417578.3:p.Cys469=
ENST00000487664.5:c.1524_1527delinsTGAG	ENSP00000417851.2:p.Cys508=
ENST00000488444.6:c.1467_1470delinsTGAG	ENSP00000419007.3:p.Cys489=
ENST00000490355.6:c.1467_1470delinsTGAG	ENSP00000418003.3:p.Cys489=
ENST00000490363.3:n.1343_1346delinsTGAG
ENST00000491806.6:c.1467_1470delinsTGAG	ENSP00000419086.3:p.Cys489=
ENST00000628528.2:c.1389_1392delinsTGAG	ENSP00000486374.1:p.Cys463=
ENST00000630792.2:c.1365_1368delinsTGAG	ENSP00000486486.1:p.Cys455=
ENST00000631073.2:c.1467_1470delinsTGAG	ENSP00000486130.1:p.Cys489=
NM_001272003.1:c.1389_1392delinsTGAG	NP_001258932.1:p.Cys463=
NM_020822.2:c.1524_1527delinsTGAG	NP_065873.2:p.Cys508=
XM_011518877.1:c.1659_1662delinsTGAG	XP_011517179.1:p.Cys553=
XM_011518878.1:c.1668_1671delinsTGAG	XP_011517180.1:p.Cys556=
XM_011518879.1:c.1659_1662delinsTGAG	XP_011517181.1:p.Cys553=
XM_011518880.1:c.1425_1428delinsTGAG	XP_011517182.1:p.Cys475=
XM_011518881.1:c.1014_1017delinsTGAG	XP_011517183.1:p.Cys338=
XM_011518877.3:c.1659_1662delinsTGAG	XP_011517179.1:p.Cys553=
XM_011518878.3:c.1668_1671delinsTGAG	XP_011517180.1:p.Cys556=
XM_011518879.3:c.1659_1662delinsTGAG	XP_011517181.1:p.Cys553=
XM_011518881.3:c.1014_1017delinsTGAG	XP_011517183.1:p.Cys338=
XM_017014931.1:c.1458_1461delinsTGAG	XP_016870420.1:p.Cys486=
XM_017014932.1:c.1281_1284delinsTGAG	XP_016870421.1:p.Cys427=
XM_017014933.1:c.1014_1017delinsTGAG	XP_016870422.1:p.Cys338=
XM_024447617.1:c.1014_1017delinsTGAG	XP_024303385.1:p.Cys338=
XM_024447618.1:c.1014_1017delinsTGAG	XP_024303386.1:p.Cys338=
NM_020822.3:c.1524_1527delinsTGAG MANE Select	NP_065873.2:p.Cys508=
NM_001272003.2:c.1389_1392delinsTGAG	NP_001258932.1:p.Cys463=