Canonical Allele Identifier: CA2692518235

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770034-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770035_135770036del , CM000671.2:g.135770035_135770036del	GRCh38
NC_000009.11:g.138661881_138661882del , CM000671.1:g.138661881_138661882del	GRCh37
NC_000009.10:g.137801702_137801703del	NCBI36
NG_033070.1:g.72851_72852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1599_1600del MANE Select	ENSP00000360822.2:p.Val534AlafsTer?
ENST00000674572.1:c.1440_1441del	ENSP00000501742.1:p.Val481AlafsTer?
ENST00000675090.1:c.1347_1348del	ENSP00000501833.1:p.Val450AlafsTer?
ENST00000675399.1:c.1347_1348del	ENSP00000501932.1:p.Val450AlafsTer?
ENST00000676421.1:c.1356_1357del	ENSP00000502322.1:p.Val453AlafsTer?
ENST00000263604.5:c.1500_1501del	ENSP00000263604.4:p.Val501AlafsTer?
ENST00000371757.6:c.1599_1600del	ENSP00000360822.2:p.Val534AlafsTer?
ENST00000460750.5:c.*1209_*1210del	ENSP00000418777.1:n.*1209_*1210del
ENST00000486577.6:c.1482_1483del	ENSP00000417578.3:p.Val495AlafsTer?
ENST00000487664.5:c.1599_1600del	ENSP00000417851.2:p.Val534AlafsTer?
ENST00000488444.6:c.1542_1543del	ENSP00000419007.3:p.Val515AlafsTer?
ENST00000490355.6:c.1542_1543del	ENSP00000418003.3:p.Val515AlafsTer?
ENST00000490363.3:n.1418_1419del
ENST00000491806.6:c.1542_1543del	ENSP00000419086.3:p.Val515AlafsTer?
ENST00000628528.2:c.1464_1465del	ENSP00000486374.1:p.Val489AlafsTer?
ENST00000630792.2:c.1440_1441del	ENSP00000486486.1:p.Val481AlafsTer?
ENST00000631073.2:c.1542_1543del	ENSP00000486130.1:p.Val515AlafsTer?
NM_001272003.1:c.1464_1465del	NP_001258932.1:p.Val489AlafsTer?
NM_020822.2:c.1599_1600del	NP_065873.2:p.Val534AlafsTer?
XM_011518877.1:c.1734_1735del	XP_011517179.1:p.Val579AlafsTer?
XM_011518878.1:c.1743_1744del	XP_011517180.1:p.Val582AlafsTer?
XM_011518879.1:c.1734_1735del	XP_011517181.1:p.Val579AlafsTer?
XM_011518880.1:c.1500_1501del	XP_011517182.1:p.Val501AlafsTer?
XM_011518881.1:c.1089_1090del	XP_011517183.1:p.Val364AlafsTer?
XM_011518877.3:c.1734_1735del	XP_011517179.1:p.Val579AlafsTer?
XM_011518878.3:c.1743_1744del	XP_011517180.1:p.Val582AlafsTer?
XM_011518879.3:c.1734_1735del	XP_011517181.1:p.Val579AlafsTer?
XM_011518881.3:c.1089_1090del	XP_011517183.1:p.Val364AlafsTer?
XM_017014931.1:c.1533_1534del	XP_016870420.1:p.Val512AlafsTer?
XM_017014932.1:c.1356_1357del	XP_016870421.1:p.Val453AlafsTer?
XM_017014933.1:c.1089_1090del	XP_016870422.1:p.Val364AlafsTer?
XM_024447617.1:c.1089_1090del	XP_024303385.1:p.Val364AlafsTer?
XM_024447618.1:c.1089_1090del	XP_024303386.1:p.Val364AlafsTer?
NM_020822.3:c.1599_1600del MANE Select	NP_065873.2:p.Val534AlafsTer?
NM_001272003.2:c.1464_1465del	NP_001258932.1:p.Val489AlafsTer?