Canonical Allele Identifier: CA412365748

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18625231C>G , CM000685.2:g.18625231C>G	GRCh38
NC_000023.10:g.18643351C>G , CM000685.1:g.18643351C>G	GRCh37
NC_000023.9:g.18553272C>G	NCBI36
NG_008475.1:g.204627C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001323289.2:c.2480C>G MANE Select	NP_001310218.1:p.Ser827Ter
ENST00000623535.2:c.2480C>G MANE Select	ENSP00000485244.1:p.Ser827Ter
NM_001037343.1:c.2480C>G	NP_001032420.1:p.Ser827Ter
NM_001037343.2:c.2480C>G	NP_001032420.1:p.Ser827Ter
NM_001323289.1:c.2480C>G	NP_001310218.1:p.Ser827Ter
NM_003159.2:c.2480C>G	NP_003150.1:p.Ser827Ter
NM_003159.3:c.2480C>G	NP_003150.1:p.Ser827Ter
ENST00000379989.6:c.2480C>G	ENSP00000369325.3:p.Ser827Ter
ENST00000379996.7:c.2480C>G	ENSP00000369332.3:p.Ser827Ter
ENST00000623535.1:c.2480C>G	ENSP00000485244.1:p.Ser827Ter
ENST00000635828.1:c.2480C>G	ENSP00000490170.1:p.Ser827Ter
ENST00000674046.1:c.2603C>G	ENSP00000501174.1:p.Ser868Ter
XM_011545569.1:c.2552C>G	XP_011543871.1:p.Ser851Ter
XM_011545570.1:c.2471C>G	XP_011543872.1:p.Ser824Ter
XR_950484.1:n.2855C>G