Canonical Allele Identifier: CA1139667262

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 953933
• ClinVar RCV Id: RCV001226302
• dbSNP Id: rs1927705610

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644616_18644617dup , CM000685.2:g.18644616_18644617dup	GRCh38
NC_000023.10:g.18662736_18662737dup , CM000685.1:g.18662736_18662737dup	GRCh37
NC_000023.9:g.18572657_18572658dup	NCBI36
NG_008475.1:g.224012_224013dup
NG_008659.3:g.37832_37833dup , LRG_702:g.37832_37833dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.335_336dup (RS1) MANE Select	ENSP00000369320.3:p.Leu113GlyfsTer14
ENST00000379984.3:c.335_336dup (RS1)	ENSP00000369320.3:p.Leu113GlyfsTer14
ENST00000379989.6:c.2714-1391_2714-1390dup (CDKL5)	ENSP00000369325.3:n.2714-1391_2714-1390dup
ENST00000379996.7:c.2714-1391_2714-1390dup (CDKL5)	ENSP00000369332.3:n.2714-1391_2714-1390dup
ENST00000476595.1:n.826_827dup (RS1)
NM_000330.3:c.335_336dup , LRG_702t1:c.335_336dup (RS1)	NP_000321.1:p.Leu113GlyfsTer14
NM_001037343.1:c.2714-1391_2714-1390dup (CDKL5)	NP_001032420.1:n.2714-1391_2714-1390dup
NM_003159.2:c.2714-1391_2714-1390dup (CDKL5)	NP_003150.1:n.2714-1391_2714-1390dup
XM_011545569.1:c.2786-1391_2786-1390dup (CDKL5)	XP_011543871.1:n.2786-1391_2786-1390dup
XM_011545570.1:c.2705-1391_2705-1390dup (CDKL5)	XP_011543872.1:n.2705-1391_2705-1390dup
XR_950484.1:n.3089-1391_3089-1390dup (CDKL5)
NM_000330.4:c.335_336dup (RS1) MANE Select	NP_000321.1:p.Leu113GlyfsTer14
NM_001037343.2:c.2714-1391_2714-1390dup (CDKL5)	NP_001032420.1:n.2714-1391_2714-1390dup
NM_003159.3:c.2714-1391_2714-1390dup (CDKL5)	NP_003150.1:n.2714-1391_2714-1390dup