Canonical Allele Identifier: CA658797373

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 540567
• ClinVar RCV Id: RCV000650635
• dbSNP Id: rs1554774874

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770376_135770377delinsTA , CM000671.2:g.135770376_135770377delinsTA	GRCh38
NC_000009.11:g.138662222_138662223delinsTA , CM000671.1:g.138662222_138662223delinsTA	GRCh37
NC_000009.10:g.137802043_137802044delinsTA	NCBI36
NG_033070.1:g.73192_73193delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1698_1699delinsTA MANE Select	ENSP00000360822.2:p.Met566_Gly567delinsIleSer
ENST00000674572.1:c.1539_1540delinsTA	ENSP00000501742.1:p.Met513_Gly514delinsIleSer
ENST00000675090.1:c.1446_1447delinsTA	ENSP00000501833.1:p.Met482_Gly483delinsIleSer
ENST00000675399.1:c.1446_1447delinsTA	ENSP00000501932.1:p.Met482_Gly483delinsIleSer
ENST00000676421.1:c.1455_1456delinsTA	ENSP00000502322.1:p.Met485_Gly486delinsIleSer
ENST00000263604.5:c.1599_1600delinsTA	ENSP00000263604.4:p.Met533_Gly534delinsIleSer
ENST00000371757.6:c.1698_1699delinsTA	ENSP00000360822.2:p.Met566_Gly567delinsIleSer
ENST00000460750.5:c.*1308_*1309delinsTA	ENSP00000418777.1:n.*1308_*1309delinsTA
ENST00000486577.6:c.1581_1582delinsTA	ENSP00000417578.3:p.Met527_Gly528delinsIleSer
ENST00000487664.5:c.1698_1699delinsTA	ENSP00000417851.2:p.Met566_Gly567delinsIleSer
ENST00000488444.6:c.1641_1642delinsTA	ENSP00000419007.3:p.Met547_Gly548delinsIleSer
ENST00000490355.6:c.1641_1642delinsTA	ENSP00000418003.3:p.Met547_Gly548delinsIleSer
ENST00000490363.3:n.1517_1518delinsTA
ENST00000491806.6:c.1641_1642delinsTA	ENSP00000419086.3:p.Met547_Gly548delinsIleSer
ENST00000628528.2:c.1563_1564delinsTA	ENSP00000486374.1:p.Met521_Gly522delinsIleSer
ENST00000630792.2:c.1539_1540delinsTA	ENSP00000486486.1:p.Met513_Gly514delinsIleSer
ENST00000631073.2:c.1641_1642delinsTA	ENSP00000486130.1:p.Met547_Gly548delinsIleSer
NM_001272003.1:c.1563_1564delinsTA	NP_001258932.1:p.Met521_Gly522delinsIleSer
NM_020822.2:c.1698_1699delinsTA	NP_065873.2:p.Met566_Gly567delinsIleSer
XM_011518877.1:c.1833_1834delinsTA	XP_011517179.1:p.Met611_Gly612delinsIleSer
XM_011518878.1:c.1842_1843delinsTA	XP_011517180.1:p.Met614_Gly615delinsIleSer
XM_011518879.1:c.1833_1834delinsTA	XP_011517181.1:p.Met611_Gly612delinsIleSer
XM_011518880.1:c.1599_1600delinsTA	XP_011517182.1:p.Met533_Gly534delinsIleSer
XM_011518881.1:c.1188_1189delinsTA	XP_011517183.1:p.Met396_Gly397delinsIleSer
XM_011518877.3:c.1833_1834delinsTA	XP_011517179.1:p.Met611_Gly612delinsIleSer
XM_011518878.3:c.1842_1843delinsTA	XP_011517180.1:p.Met614_Gly615delinsIleSer
XM_011518879.3:c.1833_1834delinsTA	XP_011517181.1:p.Met611_Gly612delinsIleSer
XM_011518881.3:c.1188_1189delinsTA	XP_011517183.1:p.Met396_Gly397delinsIleSer
XM_017014931.1:c.1632_1633delinsTA	XP_016870420.1:p.Met544_Gly545delinsIleSer
XM_017014932.1:c.1455_1456delinsTA	XP_016870421.1:p.Met485_Gly486delinsIleSer
XM_017014933.1:c.1188_1189delinsTA	XP_016870422.1:p.Met396_Gly397delinsIleSer
XM_024447617.1:c.1188_1189delinsTA	XP_024303385.1:p.Met396_Gly397delinsIleSer
XM_024447618.1:c.1188_1189delinsTA	XP_024303386.1:p.Met396_Gly397delinsIleSer
NM_020822.3:c.1698_1699delinsTA MANE Select	NP_065873.2:p.Met566_Gly567delinsIleSer
NM_001272003.2:c.1563_1564delinsTA	NP_001258932.1:p.Met521_Gly522delinsIleSer