Canonical Allele Identifier: CA591365060

Gene: KCNT1

Linked Data

• dbSNP Id: rs1343571525
• gnomAD v2: 9-138683595-AGGGGCAGGGCTGGGG-A
• gnomAD v3: 9-135791749-AGGGGCAGGGCTGGGG-A
• gnomAD v4: 9-135791749-AGGGGCAGGGCTGGGG-A
• MyVariant Identifiers: chr9:g.138683596_138683610del (hg19) ; chr9:g.135791750_135791764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791753_135791767del , CM000671.2:g.135791753_135791767del	GRCh38
NC_000009.11:g.138683599_138683613del , CM000671.1:g.138683599_138683613del	GRCh37
NC_000009.10:g.137823420_137823434del	NCBI36
NG_033070.1:g.94569_94583del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3503-44_3503-30del MANE Select	ENSP00000360822.2:n.3503-44_3503-30del
ENST00000674572.1:c.3407-44_3407-30del	ENSP00000501742.1:n.3407-44_3407-30del
ENST00000675090.1:c.3251-44_3251-30del	ENSP00000501833.1:n.3251-44_3251-30del
ENST00000675399.1:c.3314-44_3314-30del	ENSP00000501932.1:n.3314-44_3314-30del
ENST00000676421.1:c.3323-44_3323-30del	ENSP00000502322.1:n.3323-44_3323-30del
ENST00000263604.5:c.3467-44_3467-30del	ENSP00000263604.4:n.3467-44_3467-30del
ENST00000371757.6:c.3503-44_3503-30del	ENSP00000360822.2:n.3503-44_3503-30del
ENST00000460750.5:c.*3176-44_*3176-30del	ENSP00000418777.1:n.*3176-44_*3176-30del
ENST00000475008.1:n.2765_2779del
ENST00000486577.6:c.3449-44_3449-30del	ENSP00000417578.3:n.3449-44_3449-30del
ENST00000487664.5:c.3566-44_3566-30del	ENSP00000417851.2:n.3566-44_3566-30del
ENST00000488444.6:c.3488-44_3488-30del	ENSP00000419007.3:n.3488-44_3488-30del
ENST00000490355.6:c.3503-44_3503-30del	ENSP00000418003.3:n.3503-44_3503-30del
ENST00000491806.6:c.3446-44_3446-30del	ENSP00000419086.3:n.3446-44_3446-30del
ENST00000628528.2:c.3431-44_3431-30del	ENSP00000486374.1:n.3431-44_3431-30del
ENST00000630792.2:c.3401-44_3401-30del	ENSP00000486486.1:n.3401-44_3401-30del
ENST00000631073.2:c.3509-44_3509-30del	ENSP00000486130.1:n.3509-44_3509-30del
NM_001272003.1:c.3431-44_3431-30del	NP_001258932.1:n.3431-44_3431-30del
NM_020822.2:c.3503-44_3503-30del	NP_065873.2:n.3503-44_3503-30del
XM_011518877.1:c.3701-44_3701-30del	XP_011517179.1:n.3701-44_3701-30del
XM_011518878.1:c.3647-44_3647-30del	XP_011517180.1:n.3647-44_3647-30del
XM_011518879.1:c.3638-44_3638-30del	XP_011517181.1:n.3638-44_3638-30del
XM_011518880.1:c.3467-44_3467-30del	XP_011517182.1:n.3467-44_3467-30del
XM_011518881.1:c.3056-44_3056-30del	XP_011517183.1:n.3056-44_3056-30del
XM_011518877.3:c.3701-44_3701-30del	XP_011517179.1:n.3701-44_3701-30del
XM_011518878.3:c.3647-44_3647-30del	XP_011517180.1:n.3647-44_3647-30del
XM_011518879.3:c.3638-44_3638-30del	XP_011517181.1:n.3638-44_3638-30del
XM_011518881.3:c.3056-44_3056-30del	XP_011517183.1:n.3056-44_3056-30del
XM_017014931.1:c.3500-44_3500-30del	XP_016870420.1:n.3500-44_3500-30del
XM_017014932.1:c.3323-44_3323-30del	XP_016870421.1:n.3323-44_3323-30del
XM_017014933.1:c.3056-44_3056-30del	XP_016870422.1:n.3056-44_3056-30del
XM_024447617.1:c.3056-44_3056-30del	XP_024303385.1:n.3056-44_3056-30del
XM_024447618.1:c.3056-44_3056-30del	XP_024303386.1:n.3056-44_3056-30del
XR_001746978.1:n.26_40del
NM_020822.3:c.3503-44_3503-30del MANE Select	NP_065873.2:n.3503-44_3503-30del
NM_001272003.2:c.3431-44_3431-30del	NP_001258932.1:n.3431-44_3431-30del