Canonical Allele Identifier: CA2786246900
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750165_135750166insCCCAAA , CM000671.2:g.135750165_135750166insCCCAAA GRCh38
NC_000009.11:g.138642011_138642012insCCCAAA , CM000671.1:g.138642011_138642012insCCCAAA GRCh37
NC_000009.10:g.137781832_137781833insCCCAAA NCBI36
NG_033070.1:g.52981_52982insCCCAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.322_323insCCCAAA MANE Select ENSP00000360822.2:p.Lys107_Asn108insThrGln
ENST00000637018.1:n.127_128insCCCAAA
ENST00000638123.1:n.57_58insCCCAAA
ENST00000674572.1:c.163_164insCCCAAA ENSP00000501742.1:p.Lys54_Asn55insThrGln
ENST00000675090.1:c.70_71insCCCAAA ENSP00000501833.1:p.Lys23_Asn24insThrGln
ENST00000675399.1:c.70_71insCCCAAA ENSP00000501932.1:p.Lys23_Asn24insThrGln
ENST00000676421.1:c.70_71insCCCAAA ENSP00000502322.1:p.Lys23_Asn24insThrGln
ENST00000263604.5:c.223_224insCCCAAA ENSP00000263604.4:p.Lys74_Asn75insThrGln
ENST00000371757.6:c.322_323insCCCAAA ENSP00000360822.2:p.Lys107_Asn108insThrGln
ENST00000460750.5:c.322_323insCCCAAA ENSP00000418777.1:p.Lys107_Asn108insThrGln
ENST00000473941.5:c.163_164insCCCAAA ENSP00000420764.1:p.Lys54_Asn55insThrGln
ENST00000486577.6:c.205_206insCCCAAA ENSP00000417578.3:p.Lys68_Asn69insThrGln
ENST00000487664.5:c.322_323insCCCAAA ENSP00000417851.2:p.Lys107_Asn108insThrGln
ENST00000488444.6:c.265_266insCCCAAA ENSP00000419007.3:p.Lys88_Asn89insThrGln
ENST00000490355.6:c.265_266insCCCAAA ENSP00000418003.3:p.Lys88_Asn89insThrGln
ENST00000491806.6:c.265_266insCCCAAA ENSP00000419086.3:p.Lys88_Asn89insThrGln
ENST00000628528.2:c.178_179insCCCAAA ENSP00000486374.1:p.Lys59_Asn60insThrGln
ENST00000630792.2:c.163_164insCCCAAA ENSP00000486486.1:p.Lys54_Asn55insThrGln
ENST00000631073.2:c.265_266insCCCAAA ENSP00000486130.1:p.Lys88_Asn89insThrGln
NM_001272003.1:c.178_179insCCCAAA NP_001258932.1:p.Lys59_Asn60insThrGln
NM_020822.2:c.322_323insCCCAAA NP_065873.2:p.Lys107_Asn108insThrGln
XM_011518877.1:c.457_458insCCCAAA XP_011517179.1:p.Lys152_Asn153insThrGln
XM_011518878.1:c.457_458insCCCAAA XP_011517180.1:p.Lys152_Asn153insThrGln
XM_011518879.1:c.457_458insCCCAAA XP_011517181.1:p.Lys152_Asn153insThrGln
XM_011518880.1:c.223_224insCCCAAA XP_011517182.1:p.Lys74_Asn75insThrGln
XM_011518877.3:c.457_458insCCCAAA XP_011517179.1:p.Lys152_Asn153insThrGln
XM_011518878.3:c.457_458insCCCAAA XP_011517180.1:p.Lys152_Asn153insThrGln
XM_011518879.3:c.457_458insCCCAAA XP_011517181.1:p.Lys152_Asn153insThrGln
XM_017014931.1:c.347_348insCCCAAA XP_016870420.1:p.Gln115_Lys116insAsnPro
XM_017014932.1:c.70_71insCCCAAA XP_016870421.1:p.Lys23_Asn24insThrGln
XM_017014933.1:c.-98_-97insCCCAAA XP_016870422.1:n.-98_-97insCCCAAA
XM_024447617.1:c.-198_-197insCCCAAA XP_024303385.1:n.-198_-197insCCCAAA
XM_024447618.1:c.-198_-197insCCCAAA XP_024303386.1:n.-198_-197insCCCAAA
NM_020822.3:c.322_323insCCCAAA MANE Select NP_065873.2:p.Lys107_Asn108insThrGln
NM_001272003.2:c.178_179insCCCAAA NP_001258932.1:p.Lys59_Asn60insThrGln