Canonical Allele Identifier: CA2417979495

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18620097_18620100delinsTGTC , CM000685.2:g.18620097_18620100delinsTGTC	GRCh38
NC_000023.10:g.18638217_18638220delinsTGTC , CM000685.1:g.18638217_18638220delinsTGTC	GRCh37
NC_000023.9:g.18548138_18548141delinsTGTC	NCBI36
NG_008475.1:g.199493_199496delinsTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2376+131_2376+134delinsTGTC MANE Select	ENSP00000485244.1:n.2376+131_2376+134delinsTGTC
ENST00000635828.1:c.2376+131_2376+134delinsTGTC	ENSP00000490170.1:n.2376+131_2376+134delinsTGTC
ENST00000674046.1:c.2376+131_2376+134delinsTGTC	ENSP00000501174.1:n.2376+131_2376+134delinsTGTC
ENST00000379989.6:c.2376+131_2376+134delinsTGTC	ENSP00000369325.3:n.2376+131_2376+134delinsTGTC
ENST00000379996.7:c.2376+131_2376+134delinsTGTC	ENSP00000369332.3:n.2376+131_2376+134delinsTGTC
ENST00000623535.1:c.2376+131_2376+134delinsTGTC	ENSP00000485244.1:n.2376+131_2376+134delinsTGTC
NM_001037343.1:c.2376+131_2376+134delinsTGTC	NP_001032420.1:n.2376+131_2376+134delinsTGTC
NM_003159.2:c.2376+131_2376+134delinsTGTC	NP_003150.1:n.2376+131_2376+134delinsTGTC
XM_011545569.1:c.2325+131_2325+134delinsTGTC	XP_011543871.1:n.2325+131_2325+134delinsTGTC
XM_011545570.1:c.2244+131_2244+134delinsTGTC	XP_011543872.1:n.2244+131_2244+134delinsTGTC
XR_950484.1:n.2628+131_2628+134delinsTGTC
NM_001323289.1:c.2376+131_2376+134delinsTGTC	NP_001310218.1:n.2376+131_2376+134delinsTGTC
NM_001323289.2:c.2376+131_2376+134delinsTGTC MANE Select	NP_001310218.1:n.2376+131_2376+134delinsTGTC
NM_001037343.2:c.2376+131_2376+134delinsTGTC	NP_001032420.1:n.2376+131_2376+134delinsTGTC
NM_003159.3:c.2376+131_2376+134delinsTGTC	NP_003150.1:n.2376+131_2376+134delinsTGTC