Canonical Allele Identifier: CA2417986571

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642023_18642024delinsCA , CM000685.2:g.18642023_18642024delinsCA	GRCh38
NC_000023.10:g.18660143_18660144delinsCA , CM000685.1:g.18660143_18660144delinsCA	GRCh37
NC_000023.9:g.18570064_18570065delinsCA	NCBI36
NG_008475.1:g.221419_221420delinsCA
NG_008659.3:g.40425_40426delinsTG , LRG_702:g.40425_40426delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.655_656delinsTG (RS1) MANE Select	ENSP00000369320.3:p.Cys219=
ENST00000379984.3:c.655_656delinsTG (RS1)	ENSP00000369320.3:p.Cys219=
ENST00000379989.6:c.2714-3984_2714-3983delinsCA (CDKL5)	ENSP00000369325.3:n.2714-3984_2714-3983de...
ENST00000379996.7:c.2714-3984_2714-3983delinsCA (CDKL5)	ENSP00000369332.3:n.2714-3984_2714-3983de...
ENST00000476595.1:n.1146_1147delinsTG (RS1)
NM_000330.3:c.655_656delinsTG , LRG_702t1:c.655_656delinsTG (RS1)	NP_000321.1:p.Cys219=
NM_001037343.1:c.2714-3984_2714-3983delinsCA (CDKL5)	NP_001032420.1:n.2714-3984_2714-3983delin...
NM_003159.2:c.2714-3984_2714-3983delinsCA (CDKL5)	NP_003150.1:n.2714-3984_2714-3983delinsCA...
XM_011545569.1:c.2786-3984_2786-3983delinsCA (CDKL5)	XP_011543871.1:n.2786-3984_2786-3983delin...
XM_011545570.1:c.2705-3984_2705-3983delinsCA (CDKL5)	XP_011543872.1:n.2705-3984_2705-3983delin...
XR_950484.1:n.3089-3984_3089-3983delinsCA (CDKL5)
NM_000330.4:c.655_656delinsTG (RS1) MANE Select	NP_000321.1:p.Cys219=
NM_001037343.2:c.2714-3984_2714-3983delinsCA (CDKL5)	NP_001032420.1:n.2714-3984_2714-3983delin...
NM_003159.3:c.2714-3984_2714-3983delinsCA (CDKL5)	NP_003150.1:n.2714-3984_2714-3983delinsCA...