Canonical Allele Identifier: CA591143570

Gene: KCNT1 SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702379del , CM000671.2:g.135702379del	GRCh38
NC_000009.11:g.138594225del , CM000671.1:g.138594225del	GRCh37
NC_000009.10:g.137734046del	NCBI36
NG_033070.1:g.5195del
NG_033784.1:g.2150del

Transcript Alleles

HGVS	Amino-acid Change
NM_020822.3:c.110+11del (KCNT1) MANE Select	NP_065873.2:n.110+11del
ENST00000371757.7:c.110+11del (KCNT1) MANE Select	ENSP00000360822.2:n.110+11del
NM_001272003.1:c.110+11del (KCNT1)	NP_001258932.1:n.110+11del
NM_001272003.2:c.110+11del (KCNT1)	NP_001258932.1:n.110+11del
NM_020822.2:c.110+11del (KCNT1)	NP_065873.2:n.110+11del
ENST00000371757.6:c.110+11del (KCNT1)	ENSP00000360822.2:n.110+11del
ENST00000460750.5:c.110+11del (KCNT1)	ENSP00000418777.1:n.110+11del
ENST00000487664.5:c.110+11del (KCNT1)	ENSP00000417851.2:n.110+11del
ENST00000628528.2:c.110+11del (KCNT1)	ENSP00000486374.1:n.110+11del
ENST00000636274.1:n.38+11del (KCNT1)
ENST00000674066.1:n.884+1101del (SOHLH1)
XR_930435.1:n.1470del
XR_930436.1:n.1306del