Canonical Allele Identifier: CA2417987333

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644638_18644646delinsTACCGAGTC , CM000685.2:g.18644638_18644646delinsTACCGAGTC	GRCh38
NC_000023.10:g.18662758_18662766delinsTACCGAGTC , CM000685.1:g.18662758_18662766delinsTACCGAGTC	GRCh37
NC_000023.9:g.18572679_18572687delinsTACCGAGTC	NCBI36
NG_008475.1:g.224034_224042delinsTACCGAGTC
NG_008659.3:g.37803_37811delinsGACTCGGTA , LRG_702:g.37803_37811delinsGACTCGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-21_327-13delinsGACTCGGTA (RS1) MANE Select	ENSP00000369320.3:n.327-21_327-13delinsGACTCGGTA
ENST00000379984.3:c.327-21_327-13delinsGACTCGGTA (RS1)	ENSP00000369320.3:n.327-21_327-13delinsGACTCGGTA
ENST00000379989.6:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	ENSP00000369325.3:n.2714-1369_2714-1361delinsTACCGAGTC
ENST00000379996.7:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	ENSP00000369332.3:n.2714-1369_2714-1361delinsTACCGAGTC
ENST00000476595.1:n.818-21_818-13delinsGACTCGGTA (RS1)
NM_000330.3:c.327-21_327-13delinsGACTCGGTA , LRG_702t1:c.327-21_327-13delinsGACTCGGTA (RS1)	NP_000321.1:n.327-21_327-13delinsGACTCGGTA
NM_001037343.1:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	NP_001032420.1:n.2714-1369_2714-1361delinsTACCGAGTC
NM_003159.2:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	NP_003150.1:n.2714-1369_2714-1361delinsTACCGAGTC
XM_011545569.1:c.2786-1369_2786-1361delinsTACCGAGTC (CDKL5)	XP_011543871.1:n.2786-1369_2786-1361delinsTACCGAGTC
XM_011545570.1:c.2705-1369_2705-1361delinsTACCGAGTC (CDKL5)	XP_011543872.1:n.2705-1369_2705-1361delinsTACCGAGTC
XR_950484.1:n.3089-1369_3089-1361delinsTACCGAGTC (CDKL5)
NM_000330.4:c.327-21_327-13delinsGACTCGGTA (RS1) MANE Select	NP_000321.1:n.327-21_327-13delinsGACTCGGTA
NM_001037343.2:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	NP_001032420.1:n.2714-1369_2714-1361delinsTACCGAGTC
NM_003159.3:c.2714-1369_2714-1361delinsTACCGAGTC (CDKL5)	NP_003150.1:n.2714-1369_2714-1361delinsTACCGAGTC