Canonical Allele Identifier: CA1883892430

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791746_135791760delinsGGGAGGGGCAGGGCT , CM000671.2:g.135791746_135791760delinsGGGAGGGGCAGGGCT	GRCh38
NC_000009.11:g.138683592_138683606delinsGGGAGGGGCAGGGCT , CM000671.1:g.138683592_138683606delinsGGGAGGGGCAGGGCT	GRCh37
NC_000009.10:g.137823413_137823427delinsGGGAGGGGCAGGGCT	NCBI36
NG_033070.1:g.94562_94576delinsGGGAGGGGCAGGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3503-51_3503-37delinsGGGAGGGGCAGGGCT MANE Select	ENSP00000360822.2:n.3503-51_3503-37delinsGGGAGGGGCAGGGCT
ENST00000674572.1:c.3407-51_3407-37delinsGGGAGGGGCAGGGCT	ENSP00000501742.1:n.3407-51_3407-37delinsGGGAGGGGCAGGGCT
ENST00000675090.1:c.3251-51_3251-37delinsGGGAGGGGCAGGGCT	ENSP00000501833.1:n.3251-51_3251-37delinsGGGAGGGGCAGGGCT
ENST00000675399.1:c.3314-51_3314-37delinsGGGAGGGGCAGGGCT	ENSP00000501932.1:n.3314-51_3314-37delinsGGGAGGGGCAGGGCT
ENST00000676421.1:c.3323-51_3323-37delinsGGGAGGGGCAGGGCT	ENSP00000502322.1:n.3323-51_3323-37delinsGGGAGGGGCAGGGCT
ENST00000263604.5:c.3467-51_3467-37delinsGGGAGGGGCAGGGCT	ENSP00000263604.4:n.3467-51_3467-37delinsGGGAGGGGCAGGGCT
ENST00000371757.6:c.3503-51_3503-37delinsGGGAGGGGCAGGGCT	ENSP00000360822.2:n.3503-51_3503-37delinsGGGAGGGGCAGGGCT
ENST00000460750.5:c.*3176-51_*3176-37delinsGGGAGGGGCAGGGCT	ENSP00000418777.1:n.*3176-51_*3176-37delinsGGGAGGGGCAGGGCT
ENST00000475008.1:n.2758_2772delinsGGGAGGGGCAGGGCT
ENST00000486577.6:c.3449-51_3449-37delinsGGGAGGGGCAGGGCT	ENSP00000417578.3:n.3449-51_3449-37delinsGGGAGGGGCAGGGCT
ENST00000487664.5:c.3566-51_3566-37delinsGGGAGGGGCAGGGCT	ENSP00000417851.2:n.3566-51_3566-37delinsGGGAGGGGCAGGGCT
ENST00000488444.6:c.3488-51_3488-37delinsGGGAGGGGCAGGGCT	ENSP00000419007.3:n.3488-51_3488-37delinsGGGAGGGGCAGGGCT
ENST00000490355.6:c.3503-51_3503-37delinsGGGAGGGGCAGGGCT	ENSP00000418003.3:n.3503-51_3503-37delinsGGGAGGGGCAGGGCT
ENST00000491806.6:c.3446-51_3446-37delinsGGGAGGGGCAGGGCT	ENSP00000419086.3:n.3446-51_3446-37delinsGGGAGGGGCAGGGCT
ENST00000628528.2:c.3431-51_3431-37delinsGGGAGGGGCAGGGCT	ENSP00000486374.1:n.3431-51_3431-37delinsGGGAGGGGCAGGGCT
ENST00000630792.2:c.3401-51_3401-37delinsGGGAGGGGCAGGGCT	ENSP00000486486.1:n.3401-51_3401-37delinsGGGAGGGGCAGGGCT
ENST00000631073.2:c.3509-51_3509-37delinsGGGAGGGGCAGGGCT	ENSP00000486130.1:n.3509-51_3509-37delinsGGGAGGGGCAGGGCT
NM_001272003.1:c.3431-51_3431-37delinsGGGAGGGGCAGGGCT	NP_001258932.1:n.3431-51_3431-37delinsGGGAGGGGCAGGGCT
NM_020822.2:c.3503-51_3503-37delinsGGGAGGGGCAGGGCT	NP_065873.2:n.3503-51_3503-37delinsGGGAGGGGCAGGGCT
XM_011518877.1:c.3701-51_3701-37delinsGGGAGGGGCAGGGCT	XP_011517179.1:n.3701-51_3701-37delinsGGGAGGGGCAGGGCT
XM_011518878.1:c.3647-51_3647-37delinsGGGAGGGGCAGGGCT	XP_011517180.1:n.3647-51_3647-37delinsGGGAGGGGCAGGGCT
XM_011518879.1:c.3638-51_3638-37delinsGGGAGGGGCAGGGCT	XP_011517181.1:n.3638-51_3638-37delinsGGGAGGGGCAGGGCT
XM_011518880.1:c.3467-51_3467-37delinsGGGAGGGGCAGGGCT	XP_011517182.1:n.3467-51_3467-37delinsGGGAGGGGCAGGGCT
XM_011518881.1:c.3056-51_3056-37delinsGGGAGGGGCAGGGCT	XP_011517183.1:n.3056-51_3056-37delinsGGGAGGGGCAGGGCT
XM_011518877.3:c.3701-51_3701-37delinsGGGAGGGGCAGGGCT	XP_011517179.1:n.3701-51_3701-37delinsGGGAGGGGCAGGGCT
XM_011518878.3:c.3647-51_3647-37delinsGGGAGGGGCAGGGCT	XP_011517180.1:n.3647-51_3647-37delinsGGGAGGGGCAGGGCT
XM_011518879.3:c.3638-51_3638-37delinsGGGAGGGGCAGGGCT	XP_011517181.1:n.3638-51_3638-37delinsGGGAGGGGCAGGGCT
XM_011518881.3:c.3056-51_3056-37delinsGGGAGGGGCAGGGCT	XP_011517183.1:n.3056-51_3056-37delinsGGGAGGGGCAGGGCT
XM_017014931.1:c.3500-51_3500-37delinsGGGAGGGGCAGGGCT	XP_016870420.1:n.3500-51_3500-37delinsGGGAGGGGCAGGGCT
XM_017014932.1:c.3323-51_3323-37delinsGGGAGGGGCAGGGCT	XP_016870421.1:n.3323-51_3323-37delinsGGGAGGGGCAGGGCT
XM_017014933.1:c.3056-51_3056-37delinsGGGAGGGGCAGGGCT	XP_016870422.1:n.3056-51_3056-37delinsGGGAGGGGCAGGGCT
XM_024447617.1:c.3056-51_3056-37delinsGGGAGGGGCAGGGCT	XP_024303385.1:n.3056-51_3056-37delinsGGGAGGGGCAGGGCT
XM_024447618.1:c.3056-51_3056-37delinsGGGAGGGGCAGGGCT	XP_024303386.1:n.3056-51_3056-37delinsGGGAGGGGCAGGGCT
XR_001746978.1:n.30_44delinsAGCCCTGCCCCTCCC
NM_020822.3:c.3503-51_3503-37delinsGGGAGGGGCAGGGCT MANE Select	NP_065873.2:n.3503-51_3503-37delinsGGGAGGGGCAGGGCT
NM_001272003.2:c.3431-51_3431-37delinsGGGAGGGGCAGGGCT	NP_001258932.1:n.3431-51_3431-37delinsGGGAGGGGCAGGGCT