Canonical Allele Identifier: CA2692524289

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135791683-CAGGAAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791684_135791690del , CM000671.2:g.135791684_135791690del	GRCh38
NC_000009.11:g.138683530_138683536del , CM000671.1:g.138683530_138683536del	GRCh37
NC_000009.10:g.137823351_137823357del	NCBI36
NG_033070.1:g.94500_94506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3503-113_3503-107del MANE Select	ENSP00000360822.2:n.3503-113_3503-107del
ENST00000674572.1:c.3407-113_3407-107del	ENSP00000501742.1:n.3407-113_3407-107del
ENST00000675090.1:c.3251-113_3251-107del	ENSP00000501833.1:n.3251-113_3251-107del
ENST00000675399.1:c.3314-113_3314-107del	ENSP00000501932.1:n.3314-113_3314-107del
ENST00000676421.1:c.3323-113_3323-107del	ENSP00000502322.1:n.3323-113_3323-107del
ENST00000263604.5:c.3467-113_3467-107del	ENSP00000263604.4:n.3467-113_3467-107del
ENST00000371757.6:c.3503-113_3503-107del	ENSP00000360822.2:n.3503-113_3503-107del
ENST00000460750.5:c.*3176-113_*3176-107del	ENSP00000418777.1:n.*3176-113_*3176-107del
ENST00000475008.1:n.2696_2702del
ENST00000486577.6:c.3449-113_3449-107del	ENSP00000417578.3:n.3449-113_3449-107del
ENST00000487664.5:c.3566-113_3566-107del	ENSP00000417851.2:n.3566-113_3566-107del
ENST00000488444.6:c.3488-113_3488-107del	ENSP00000419007.3:n.3488-113_3488-107del
ENST00000490355.6:c.3503-113_3503-107del	ENSP00000418003.3:n.3503-113_3503-107del
ENST00000491806.6:c.3446-113_3446-107del	ENSP00000419086.3:n.3446-113_3446-107del
ENST00000628528.2:c.3431-113_3431-107del	ENSP00000486374.1:n.3431-113_3431-107del
ENST00000630792.2:c.3401-113_3401-107del	ENSP00000486486.1:n.3401-113_3401-107del
ENST00000631073.2:c.3509-113_3509-107del	ENSP00000486130.1:n.3509-113_3509-107del
NM_001272003.1:c.3431-113_3431-107del	NP_001258932.1:n.3431-113_3431-107del
NM_020822.2:c.3503-113_3503-107del	NP_065873.2:n.3503-113_3503-107del
XM_011518877.1:c.3701-113_3701-107del	XP_011517179.1:n.3701-113_3701-107del
XM_011518878.1:c.3647-113_3647-107del	XP_011517180.1:n.3647-113_3647-107del
XM_011518879.1:c.3638-113_3638-107del	XP_011517181.1:n.3638-113_3638-107del
XM_011518880.1:c.3467-113_3467-107del	XP_011517182.1:n.3467-113_3467-107del
XM_011518881.1:c.3056-113_3056-107del	XP_011517183.1:n.3056-113_3056-107del
XM_011518877.3:c.3701-113_3701-107del	XP_011517179.1:n.3701-113_3701-107del
XM_011518878.3:c.3647-113_3647-107del	XP_011517180.1:n.3647-113_3647-107del
XM_011518879.3:c.3638-113_3638-107del	XP_011517181.1:n.3638-113_3638-107del
XM_011518881.3:c.3056-113_3056-107del	XP_011517183.1:n.3056-113_3056-107del
XM_017014931.1:c.3500-113_3500-107del	XP_016870420.1:n.3500-113_3500-107del
XM_017014932.1:c.3323-113_3323-107del	XP_016870421.1:n.3323-113_3323-107del
XM_017014933.1:c.3056-113_3056-107del	XP_016870422.1:n.3056-113_3056-107del
XM_024447617.1:c.3056-113_3056-107del	XP_024303385.1:n.3056-113_3056-107del
XM_024447618.1:c.3056-113_3056-107del	XP_024303386.1:n.3056-113_3056-107del
XR_001746978.1:n.100_106del
NM_020822.3:c.3503-113_3503-107del MANE Select	NP_065873.2:n.3503-113_3503-107del
NM_001272003.2:c.3431-113_3431-107del	NP_001258932.1:n.3431-113_3431-107del