Canonical Allele Identifier: CA2579510911

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769955del , CM000671.2:g.135769955del	GRCh38
NC_000009.11:g.138661801del , CM000671.1:g.138661801del	GRCh37
NC_000009.10:g.137801622del	NCBI36
NG_033070.1:g.72771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1519del MANE Select	ENSP00000360822.2:p.Val507CysfsTer13
ENST00000674572.1:c.1360del	ENSP00000501742.1:p.Val454CysfsTer13
ENST00000675090.1:c.1267del	ENSP00000501833.1:p.Val423CysfsTer13
ENST00000675399.1:c.1267del	ENSP00000501932.1:p.Val423CysfsTer13
ENST00000676421.1:c.1276del	ENSP00000502322.1:p.Val426CysfsTer13
ENST00000263604.5:c.1420del	ENSP00000263604.4:p.Val474CysfsTer13
ENST00000371757.6:c.1519del	ENSP00000360822.2:p.Val507CysfsTer13
ENST00000460750.5:c.*1129del	ENSP00000418777.1:n.*1129del
ENST00000486577.6:c.1402del	ENSP00000417578.3:p.Val468CysfsTer13
ENST00000487664.5:c.1519del	ENSP00000417851.2:p.Val507CysfsTer13
ENST00000488444.6:c.1462del	ENSP00000419007.3:p.Val488CysfsTer13
ENST00000490355.6:c.1462del	ENSP00000418003.3:p.Val488CysfsTer13
ENST00000490363.3:n.1338del
ENST00000491806.6:c.1462del	ENSP00000419086.3:p.Val488CysfsTer13
ENST00000628528.2:c.1384del	ENSP00000486374.1:p.Val462CysfsTer13
ENST00000630792.2:c.1360del	ENSP00000486486.1:p.Val454CysfsTer13
ENST00000631073.2:c.1462del	ENSP00000486130.1:p.Val488CysfsTer13
NM_001272003.1:c.1384del	NP_001258932.1:p.Val462CysfsTer13
NM_020822.2:c.1519del	NP_065873.2:p.Val507CysfsTer13
XM_011518877.1:c.1654del	XP_011517179.1:p.Val552CysfsTer13
XM_011518878.1:c.1663del	XP_011517180.1:p.Val555CysfsTer13
XM_011518879.1:c.1654del	XP_011517181.1:p.Val552CysfsTer13
XM_011518880.1:c.1420del	XP_011517182.1:p.Val474CysfsTer13
XM_011518881.1:c.1009del	XP_011517183.1:p.Val337CysfsTer13
XM_011518877.3:c.1654del	XP_011517179.1:p.Val552CysfsTer13
XM_011518878.3:c.1663del	XP_011517180.1:p.Val555CysfsTer13
XM_011518879.3:c.1654del	XP_011517181.1:p.Val552CysfsTer13
XM_011518881.3:c.1009del	XP_011517183.1:p.Val337CysfsTer13
XM_017014931.1:c.1453del	XP_016870420.1:p.Val485CysfsTer13
XM_017014932.1:c.1276del	XP_016870421.1:p.Val426CysfsTer13
XM_017014933.1:c.1009del	XP_016870422.1:p.Val337CysfsTer13
XM_024447617.1:c.1009del	XP_024303385.1:p.Val337CysfsTer13
XM_024447618.1:c.1009del	XP_024303386.1:p.Val337CysfsTer13
NM_020822.3:c.1519del MANE Select	NP_065873.2:p.Val507CysfsTer13
NM_001272003.2:c.1384del	NP_001258932.1:p.Val462CysfsTer13