Canonical Allele Identifier: CA591364837

Gene: KCNT1

Linked Data

• dbSNP Id: rs1318366998
• gnomAD v2: 9-138662291-GAAGT-G
• gnomAD v4: 9-135770445-GAAGT-G
• MyVariant Identifiers: chr9:g.138662292_138662295del (hg19) ; chr9:g.135770446_135770449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770449_135770452del , CM000671.2:g.135770449_135770452del	GRCh38
NC_000009.11:g.138662295_138662298del , CM000671.1:g.138662295_138662298del	GRCh37
NC_000009.10:g.137802116_137802119del	NCBI36
NG_033070.1:g.73265_73268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1769+2_1769+5del
ENST00000674572.1:c.1610+2_1610+5del
ENST00000675090.1:c.1517+2_1517+5del
ENST00000675399.1:c.1517+2_1517+5del
ENST00000676421.1:c.1526+2_1526+5del
ENST00000263604.5:c.1670+2_1670+5del
ENST00000371757.6:c.1769+2_1769+5del
ENST00000460750.5:c.*1379+2_*1379+5del
ENST00000486577.6:c.1652+2_1652+5del
ENST00000487664.5:c.1769+2_1769+5del
ENST00000488444.6:c.1712+2_1712+5del
ENST00000490355.6:c.1712+2_1712+5del
ENST00000490363.3:n.1588+2_1588+5del
ENST00000491806.6:c.1712+2_1712+5del
ENST00000628528.2:c.1634+2_1634+5del
ENST00000630792.2:c.1610+2_1610+5del
ENST00000631073.2:c.1712+2_1712+5del
NM_001272003.1:c.1634+2_1634+5del
NM_020822.2:c.1769+2_1769+5del
XM_011518877.1:c.1904+2_1904+5del
XM_011518878.1:c.1913+2_1913+5del
XM_011518879.1:c.1904+2_1904+5del
XM_011518880.1:c.1670+2_1670+5del
XM_011518881.1:c.1259+2_1259+5del
XM_011518877.3:c.1904+2_1904+5del
XM_011518878.3:c.1913+2_1913+5del
XM_011518879.3:c.1904+2_1904+5del
XM_011518881.3:c.1259+2_1259+5del
XM_017014931.1:c.1703+2_1703+5del
XM_017014932.1:c.1526+2_1526+5del
XM_017014933.1:c.1259+2_1259+5del
XM_024447617.1:c.1259+2_1259+5del
XM_024447618.1:c.1259+2_1259+5del
NM_020822.3:c.1769+2_1769+5del
NM_001272003.2:c.1634+2_1634+5del