Canonical Allele Identifier: CA2693223373

Gene: CDKL5

Linked Data

• gnomAD v4: X-18620089-C-CTTGGCAATCAAAGTTGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18620090_18620091insTGGCAATCAAAGTTGATT , CM000685.2:g.18620090_18620091insTGGCAATCAAAGTTGATT	GRCh38
NC_000023.10:g.18638210_18638211insTGGCAATCAAAGTTGATT , CM000685.1:g.18638210_18638211insTGGCAATCAAAGTTGATT	GRCh37
NC_000023.9:g.18548131_18548132insTGGCAATCAAAGTTGATT	NCBI36
NG_008475.1:g.199486_199487insTGGCAATCAAAGTTGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2376+124_2376+125insTGGCAATCAAAGTTGATT MANE Select	ENSP00000485244.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
ENST00000635828.1:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	ENSP00000490170.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
ENST00000674046.1:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	ENSP00000501174.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
ENST00000379989.6:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	ENSP00000369325.3:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
ENST00000379996.7:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	ENSP00000369332.3:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
ENST00000623535.1:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	ENSP00000485244.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
NM_001037343.1:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	NP_001032420.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
NM_003159.2:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	NP_003150.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
XM_011545569.1:c.2325+124_2325+125insTGGCAATCAAAGTTGATT	XP_011543871.1:n.2325+124_2325+125insTGGCAATCAAAGTTGATT
XM_011545570.1:c.2244+124_2244+125insTGGCAATCAAAGTTGATT	XP_011543872.1:n.2244+124_2244+125insTGGCAATCAAAGTTGATT
XR_950484.1:n.2628+124_2628+125insTGGCAATCAAAGTTGATT
NM_001323289.1:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	NP_001310218.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
NM_001323289.2:c.2376+124_2376+125insTGGCAATCAAAGTTGATT MANE Select	NP_001310218.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
NM_001037343.2:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	NP_001032420.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT
NM_003159.3:c.2376+124_2376+125insTGGCAATCAAAGTTGATT	NP_003150.1:n.2376+124_2376+125insTGGCAATCAAAGTTGATT