Canonical Allele Identifier: CA2580080055

Gene: KCNT1 SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702368_135702392delinsTTGACGACGGCCCCATTGACGACGGCCAATG , CM000671.2:g.135702368_135702392delinsTTGACGACGGCCCCATTGACGACGGCCAATG	GRCh38
NC_000009.11:g.138594214_138594238delinsTTGACGACGGCCCCATTGACGACGGCCAATG , CM000671.1:g.138594214_138594238delinsTTGACGACGGCCCCATTGACGACGGCCAATG	GRCh37
NC_000009.10:g.137734035_137734059delinsTTGACGACGGCCCCATTGACGACGGCCAATG	NCBI36
NG_033070.1:g.5184_5208delinsTTGACGACGGCCCCATTGACGACGGCCAATG
NG_033784.1:g.2137_2161delinsCATTGGCCGTCGTCAATGGGGCCGTCGTCAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001272003.1:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
NM_001272003.2:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
NM_020822.2:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
NM_020822.3:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000371757.6:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000371757.7:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000460750.5:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000487664.5:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000628528.2:c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000636274.1:n.38_38+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG (KCNT1)
ENST00000674066.1:n.884+1088_884+1112delinsCATTGGCCGTCGTCAATGGGGCCGTCGTCAA (SOHLH1)
XR_930435.1:n.1457_1481delinsCATTGGCCGTCGTCAATGGGGCCGTCGTCAA
XR_930436.1:n.1293_1317delinsCATTGGCCGTCGTCAATGGGGCCGTCGTCAA