Canonical Allele Identifier: CA327013546

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18653169G>T , CM000685.2:g.18653169G>T	GRCh38
NC_000023.10:g.18671289G>T , CM000685.1:g.18671289G>T	GRCh37
NC_000023.9:g.18581210G>T	NCBI36
NG_008475.1:g.232565G>T
NG_008659.3:g.29280C>A , LRG_702:g.29280C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000330.4:c.184+3484C>A (RS1) MANE Select	NP_000321.1:n.184+3484C>A
ENST00000379984.4:c.184+3484C>A (RS1) MANE Select	ENSP00000369320.3:n.184+3484C>A
NM_000330.3:c.184+3484C>A , LRG_702t1:c.184+3484C>A (RS1)	NP_000321.1:n.184+3484C>A
NM_001037343.1:c.2981-263G>T (CDKL5)	NP_001032420.1:n.2981-263G>T
NM_001037343.2:c.2981-263G>T (CDKL5)	NP_001032420.1:n.2981-263G>T
NM_003159.2:c.2981-263G>T (CDKL5)	NP_003150.1:n.2981-263G>T
NM_003159.3:c.2981-263G>T (CDKL5)	NP_003150.1:n.2981-263G>T
ENST00000379984.3:c.184+3484C>A (RS1)	ENSP00000369320.3:n.184+3484C>A
ENST00000379989.6:c.2981-263G>T (CDKL5)	ENSP00000369325.3:n.2981-263G>T
ENST00000379996.7:c.2981-263G>T (CDKL5)	ENSP00000369332.3:n.2981-263G>T
ENST00000673617.1:n.253-263G>T (CDKL5)
XM_011545569.1:c.3053-263G>T (CDKL5)	XP_011543871.1:n.3053-263G>T
XM_011545570.1:c.2972-263G>T (CDKL5)	XP_011543872.1:n.2972-263G>T
XR_950484.1:n.3356-263G>T (CDKL5)