Canonical Allele Identifier: CA226845

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 99017
• ClinVar RCV Id: RCV000085359
• dbSNP Id: rs281865371
• MyVariant Identifiers: chrX:g.18660120_18660144del (hg19) ; chrX:g.18642000_18642024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642000_18642024del , CM000685.2:g.18642000_18642024del	GRCh38
NC_000023.10:g.18660120_18660144del , CM000685.1:g.18660120_18660144del	GRCh37
NC_000023.9:g.18570041_18570065del	NCBI36
NG_008475.1:g.221396_221420del
NG_008659.3:g.40428_40452del , LRG_702:g.40428_40452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.658_*7del (RS1) MANE Select	ENSP00000369320.3:n.[c.658_*7del;Val220Le...
ENST00000379984.3:c.658_*7del (RS1)	ENSP00000369320.3:n.[c.658_*7del;Val220Le...
ENST00000379989.6:c.2714-4007_2714-3983del (CDKL5)	ENSP00000369325.3:n.2714-4007_2714-3983de...
ENST00000379996.7:c.2714-4007_2714-3983del (CDKL5)	ENSP00000369332.3:n.2714-4007_2714-3983de...
ENST00000476595.1:n.1149_1173del (RS1)
NM_000330.3:c.658_*7del , LRG_702t1:c.658_*7del (RS1)	NP_000321.1:n.[c.658_*7del;Val220LeufsTer...
NM_001037343.1:c.2714-4007_2714-3983del (CDKL5)	NP_001032420.1:n.2714-4007_2714-3983del
NM_003159.2:c.2714-4007_2714-3983del (CDKL5)	NP_003150.1:n.2714-4007_2714-3983del
XM_011545569.1:c.2786-4007_2786-3983del (CDKL5)	XP_011543871.1:n.2786-4007_2786-3983del
XM_011545570.1:c.2705-4007_2705-3983del (CDKL5)	XP_011543872.1:n.2705-4007_2705-3983del
XR_950484.1:n.3089-4007_3089-3983del (CDKL5)
NM_000330.4:c.658_*7del (RS1) MANE Select	NP_000321.1:n.[c.658_*7del;Val220LeufsTer...
NM_001037343.2:c.2714-4007_2714-3983del (CDKL5)	NP_001032420.1:n.2714-4007_2714-3983del
NM_003159.3:c.2714-4007_2714-3983del (CDKL5)	NP_003150.1:n.2714-4007_2714-3983del