Canonical Allele Identifier: CA2692518560

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770185-AGGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770190_135770194del , CM000671.2:g.135770190_135770194del	GRCh38
NC_000009.11:g.138662036_138662040del , CM000671.1:g.138662036_138662040del	GRCh37
NC_000009.10:g.137801857_137801861del	NCBI36
NG_033070.1:g.73006_73010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1620-108_1620-104del MANE Select	ENSP00000360822.2:n.1620-108_1620-104del
ENST00000674572.1:c.1461-108_1461-104del	ENSP00000501742.1:n.1461-108_1461-104del
ENST00000675090.1:c.1368-108_1368-104del	ENSP00000501833.1:n.1368-108_1368-104del
ENST00000675399.1:c.1368-108_1368-104del	ENSP00000501932.1:n.1368-108_1368-104del
ENST00000676421.1:c.1377-108_1377-104del	ENSP00000502322.1:n.1377-108_1377-104del
ENST00000263604.5:c.1521-108_1521-104del	ENSP00000263604.4:n.1521-108_1521-104del
ENST00000371757.6:c.1620-108_1620-104del	ENSP00000360822.2:n.1620-108_1620-104del
ENST00000460750.5:c.*1230-108_*1230-104del	ENSP00000418777.1:n.*1230-108_*1230-104del
ENST00000486577.6:c.1503-108_1503-104del	ENSP00000417578.3:n.1503-108_1503-104del
ENST00000487664.5:c.1620-108_1620-104del	ENSP00000417851.2:n.1620-108_1620-104del
ENST00000488444.6:c.1563-108_1563-104del	ENSP00000419007.3:n.1563-108_1563-104del
ENST00000490355.6:c.1563-108_1563-104del	ENSP00000418003.3:n.1563-108_1563-104del
ENST00000490363.3:n.1439-108_1439-104del
ENST00000491806.6:c.1563-108_1563-104del	ENSP00000419086.3:n.1563-108_1563-104del
ENST00000628528.2:c.1485-108_1485-104del	ENSP00000486374.1:n.1485-108_1485-104del
ENST00000630792.2:c.1461-108_1461-104del	ENSP00000486486.1:n.1461-108_1461-104del
ENST00000631073.2:c.1563-108_1563-104del	ENSP00000486130.1:n.1563-108_1563-104del
NM_001272003.1:c.1485-108_1485-104del	NP_001258932.1:n.1485-108_1485-104del
NM_020822.2:c.1620-108_1620-104del	NP_065873.2:n.1620-108_1620-104del
XM_011518877.1:c.1755-108_1755-104del	XP_011517179.1:n.1755-108_1755-104del
XM_011518878.1:c.1764-108_1764-104del	XP_011517180.1:n.1764-108_1764-104del
XM_011518879.1:c.1755-108_1755-104del	XP_011517181.1:n.1755-108_1755-104del
XM_011518880.1:c.1521-108_1521-104del	XP_011517182.1:n.1521-108_1521-104del
XM_011518881.1:c.1110-108_1110-104del	XP_011517183.1:n.1110-108_1110-104del
XM_011518877.3:c.1755-108_1755-104del	XP_011517179.1:n.1755-108_1755-104del
XM_011518878.3:c.1764-108_1764-104del	XP_011517180.1:n.1764-108_1764-104del
XM_011518879.3:c.1755-108_1755-104del	XP_011517181.1:n.1755-108_1755-104del
XM_011518881.3:c.1110-108_1110-104del	XP_011517183.1:n.1110-108_1110-104del
XM_017014931.1:c.1554-108_1554-104del	XP_016870420.1:n.1554-108_1554-104del
XM_017014932.1:c.1377-108_1377-104del	XP_016870421.1:n.1377-108_1377-104del
XM_017014933.1:c.1110-108_1110-104del	XP_016870422.1:n.1110-108_1110-104del
XM_024447617.1:c.1110-108_1110-104del	XP_024303385.1:n.1110-108_1110-104del
XM_024447618.1:c.1110-108_1110-104del	XP_024303386.1:n.1110-108_1110-104del
NM_020822.3:c.1620-108_1620-104del MANE Select	NP_065873.2:n.1620-108_1620-104del
NM_001272003.2:c.1485-108_1485-104del	NP_001258932.1:n.1485-108_1485-104del