Canonical Allele Identifier: CA2417987361

Gene: RS1 CDKL5

Linked Data

• dbSNP Id: rs2043497787

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644674_18644679del , CM000685.2:g.18644674_18644679del	GRCh38
NC_000023.10:g.18662794_18662799del , CM000685.1:g.18662794_18662799del	GRCh37
NC_000023.9:g.18572715_18572720del	NCBI36
NG_008475.1:g.224070_224075del
NG_008659.3:g.37770_37775del , LRG_702:g.37770_37775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-54_327-49del (RS1) MANE Select	ENSP00000369320.3:n.327-54_327-49del
ENST00000379984.3:c.327-54_327-49del (RS1)	ENSP00000369320.3:n.327-54_327-49del
ENST00000379989.6:c.2714-1333_2714-1328del (CDKL5)	ENSP00000369325.3:n.2714-1333_2714-1328del
ENST00000379996.7:c.2714-1333_2714-1328del (CDKL5)	ENSP00000369332.3:n.2714-1333_2714-1328del
ENST00000476595.1:n.818-54_818-49del (RS1)
NM_000330.3:c.327-54_327-49del , LRG_702t1:c.327-54_327-49del (RS1)	NP_000321.1:n.327-54_327-49del
NM_001037343.1:c.2714-1333_2714-1328del (CDKL5)	NP_001032420.1:n.2714-1333_2714-1328del
NM_003159.2:c.2714-1333_2714-1328del (CDKL5)	NP_003150.1:n.2714-1333_2714-1328del
XM_011545569.1:c.2786-1333_2786-1328del (CDKL5)	XP_011543871.1:n.2786-1333_2786-1328del
XM_011545570.1:c.2705-1333_2705-1328del (CDKL5)	XP_011543872.1:n.2705-1333_2705-1328del
XR_950484.1:n.3089-1333_3089-1328del (CDKL5)
NM_000330.4:c.327-54_327-49del (RS1) MANE Select	NP_000321.1:n.327-54_327-49del
NM_001037343.2:c.2714-1333_2714-1328del (CDKL5)	NP_001032420.1:n.2714-1333_2714-1328del
NM_003159.3:c.2714-1333_2714-1328del (CDKL5)	NP_003150.1:n.2714-1333_2714-1328del