Canonical Allele Identifier: CA2417987193

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644277_18644281delinsAAGAG , CM000685.2:g.18644277_18644281delinsAAGAG	GRCh38
NC_000023.10:g.18662397_18662401delinsAAGAG , CM000685.1:g.18662397_18662401delinsAAGAG	GRCh37
NC_000023.9:g.18572318_18572322delinsAAGAG	NCBI36
NG_008475.1:g.223673_223677delinsAAGAG
NG_008659.3:g.38168_38172delinsCTCTT , LRG_702:g.38168_38172delinsCTCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.522+149_522+153delinsCTCTT (RS1) MANE Select	ENSP00000369320.3:n.522+149_522+153delinsCTCTT
ENST00000379984.3:c.522+149_522+153delinsCTCTT (RS1)	ENSP00000369320.3:n.522+149_522+153delinsCTCTT
ENST00000379989.6:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	ENSP00000369325.3:n.2714-1730_2714-1726delinsAAGAG
ENST00000379996.7:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	ENSP00000369332.3:n.2714-1730_2714-1726delinsAAGAG
ENST00000476595.1:n.1013+149_1013+153delinsCTCTT (RS1)
NM_000330.3:c.522+149_522+153delinsCTCTT , LRG_702t1:c.522+149_522+153delinsCTCTT (RS1)	NP_000321.1:n.522+149_522+153delinsCTCTT
NM_001037343.1:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	NP_001032420.1:n.2714-1730_2714-1726delinsAAGAG
NM_003159.2:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	NP_003150.1:n.2714-1730_2714-1726delinsAAGAG
XM_011545569.1:c.2786-1730_2786-1726delinsAAGAG (CDKL5)	XP_011543871.1:n.2786-1730_2786-1726delinsAAGAG
XM_011545570.1:c.2705-1730_2705-1726delinsAAGAG (CDKL5)	XP_011543872.1:n.2705-1730_2705-1726delinsAAGAG
XR_950484.1:n.3089-1730_3089-1726delinsAAGAG (CDKL5)
NM_000330.4:c.522+149_522+153delinsCTCTT (RS1) MANE Select	NP_000321.1:n.522+149_522+153delinsCTCTT
NM_001037343.2:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	NP_001032420.1:n.2714-1730_2714-1726delinsAAGAG
NM_003159.3:c.2714-1730_2714-1726delinsAAGAG (CDKL5)	NP_003150.1:n.2714-1730_2714-1726delinsAAGAG