Canonical Allele Identifier: CA1883842922
Gene: KCNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1831055344

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135749981_135749982del , CM000671.2:g.135749981_135749982del GRCh38
NC_000009.11:g.138641827_138641828del , CM000671.1:g.138641827_138641828del GRCh37
NC_000009.10:g.137781648_137781649del NCBI36
NG_033070.1:g.52797_52798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.255-117_255-116del MANE Select ENSP00000360822.2:n.255-117_255-116del
ENST00000637018.1:n.60-117_60-116del
ENST00000674572.1:c.96-117_96-116del ENSP00000501742.1:n.96-117_96-116del
ENST00000675090.1:c.3-117_3-116del ENSP00000501833.1:n.3-117_3-116del
ENST00000675399.1:c.3-117_3-116del ENSP00000501932.1:n.3-117_3-116del
ENST00000676421.1:c.3-117_3-116del ENSP00000502322.1:n.3-117_3-116del
ENST00000263604.5:c.156-117_156-116del ENSP00000263604.4:n.156-117_156-116del
ENST00000371757.6:c.255-117_255-116del ENSP00000360822.2:n.255-117_255-116del
ENST00000460750.5:c.255-117_255-116del ENSP00000418777.1:n.255-117_255-116del
ENST00000473941.5:c.96-117_96-116del ENSP00000420764.1:n.96-117_96-116del
ENST00000486577.6:c.138-117_138-116del ENSP00000417578.3:n.138-117_138-116del
ENST00000487664.5:c.255-117_255-116del ENSP00000417851.2:n.255-117_255-116del
ENST00000488444.6:c.198-117_198-116del ENSP00000419007.3:n.198-117_198-116del
ENST00000490355.6:c.198-117_198-116del ENSP00000418003.3:n.198-117_198-116del
ENST00000491806.6:c.198-117_198-116del ENSP00000419086.3:n.198-117_198-116del
ENST00000628528.2:c.111-117_111-116del ENSP00000486374.1:n.111-117_111-116del
ENST00000630792.2:c.96-117_96-116del ENSP00000486486.1:n.96-117_96-116del
ENST00000631073.2:c.198-117_198-116del ENSP00000486130.1:n.198-117_198-116del
NM_001272003.1:c.111-117_111-116del NP_001258932.1:n.111-117_111-116del
NM_020822.2:c.255-117_255-116del NP_065873.2:n.255-117_255-116del
XM_011518877.1:c.390-117_390-116del XP_011517179.1:n.390-117_390-116del
XM_011518878.1:c.390-117_390-116del XP_011517180.1:n.390-117_390-116del
XM_011518879.1:c.390-117_390-116del XP_011517181.1:n.390-117_390-116del
XM_011518880.1:c.156-117_156-116del XP_011517182.1:n.156-117_156-116del
XM_011518877.3:c.390-117_390-116del XP_011517179.1:n.390-117_390-116del
XM_011518878.3:c.390-117_390-116del XP_011517180.1:n.390-117_390-116del
XM_011518879.3:c.390-117_390-116del XP_011517181.1:n.390-117_390-116del
XM_017014931.1:c.280-117_280-116del XP_016870420.1:n.280-117_280-116del
XM_017014932.1:c.3-117_3-116del XP_016870421.1:n.3-117_3-116del
XM_017014933.1:c.-165-117_-165-116del XP_016870422.1:n.-165-117_-165-116del
XM_024447617.1:c.-298_-297del XP_024303385.1:n.-298_-297del
XM_024447618.1:c.-265-117_-265-116del XP_024303386.1:n.-265-117_-265-116del
NM_020822.3:c.255-117_255-116del MANE Select NP_065873.2:n.255-117_255-116del
NM_001272003.2:c.111-117_111-116del NP_001258932.1:n.111-117_111-116del