Canonical Allele Identifier: CA2693227797

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641936-GTGAGGGGGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641937_18641947del , CM000685.2:g.18641937_18641947del	GRCh38
NC_000023.10:g.18660057_18660067del , CM000685.1:g.18660057_18660067del	GRCh37
NC_000023.9:g.18569978_18569988del	NCBI36
NG_008475.1:g.221333_221343del
NG_008659.3:g.40502_40512del , LRG_702:g.40502_40512del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*57_*67del (RS1) MANE Select	ENSP00000369320.3:n.*57_*67del
ENST00000379984.3:c.*57_*67del (RS1)	ENSP00000369320.3:n.*57_*67del
ENST00000379989.6:c.2714-4070_2714-4060del (CDKL5)	ENSP00000369325.3:n.2714-4070_2714-4060de...
ENST00000379996.7:c.2714-4070_2714-4060del (CDKL5)	ENSP00000369332.3:n.2714-4070_2714-4060de...
ENST00000476595.1:n.1223_1233del (RS1)
NM_000330.3:c.*57_*67del , LRG_702t1:c.*57_*67del (RS1)	NP_000321.1:n.*57_*67del
NM_001037343.1:c.2714-4070_2714-4060del (CDKL5)	NP_001032420.1:n.2714-4070_2714-4060del
NM_003159.2:c.2714-4070_2714-4060del (CDKL5)	NP_003150.1:n.2714-4070_2714-4060del
XM_011545569.1:c.2786-4070_2786-4060del (CDKL5)	XP_011543871.1:n.2786-4070_2786-4060del
XM_011545570.1:c.2705-4070_2705-4060del (CDKL5)	XP_011543872.1:n.2705-4070_2705-4060del
XR_950484.1:n.3089-4070_3089-4060del (CDKL5)
NM_000330.4:c.*57_*67del (RS1) MANE Select	NP_000321.1:n.*57_*67del
NM_001037343.2:c.2714-4070_2714-4060del (CDKL5)	NP_001032420.1:n.2714-4070_2714-4060del
NM_003159.3:c.2714-4070_2714-4060del (CDKL5)	NP_003150.1:n.2714-4070_2714-4060del