Canonical Allele Identifier: CA1131406404

Gene: RS1 CDKL5

Linked Data

• gnomAD v3: X-18644392-G-GTGCGAGCTGAAGTTGGTTTGGGATAAGCCCAACTTACCCGGTT
• gnomAD v4: X-18644392-G-GTGCGAGCTGAAGTTGGTTTGGGATAAGCCCAACTTACCCGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644393_18644435dup , CM000685.2:g.18644393_18644435dup	GRCh38
NC_000023.10:g.18662513_18662555dup , CM000685.1:g.18662513_18662555dup	GRCh37
NC_000023.9:g.18572434_18572476dup	NCBI36
NG_008475.1:g.223789_223831dup
NG_008659.3:g.38014_38056dup , LRG_702:g.38014_38056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.517_522+37dup (RS1)
ENST00000379984.3:c.517_522+37dup (RS1)
ENST00000379989.6:c.2714-1614_2714-1572dup (CDKL5)	ENSP00000369325.3:n.2714-1614_2714-1572dup
ENST00000379996.7:c.2714-1614_2714-1572dup (CDKL5)	ENSP00000369332.3:n.2714-1614_2714-1572dup
ENST00000476595.1:n.1008_1013+37dup (RS1)
NM_000330.3:c.517_522+37dup , LRG_702t1:c.517_522+37dup (RS1)
NM_001037343.1:c.2714-1614_2714-1572dup (CDKL5)	NP_001032420.1:n.2714-1614_2714-1572dup
NM_003159.2:c.2714-1614_2714-1572dup (CDKL5)	NP_003150.1:n.2714-1614_2714-1572dup
XM_011545569.1:c.2786-1614_2786-1572dup (CDKL5)	XP_011543871.1:n.2786-1614_2786-1572dup
XM_011545570.1:c.2705-1614_2705-1572dup (CDKL5)	XP_011543872.1:n.2705-1614_2705-1572dup
XR_950484.1:n.3089-1614_3089-1572dup (CDKL5)
NM_000330.4:c.517_522+37dup (RS1)
NM_001037343.2:c.2714-1614_2714-1572dup (CDKL5)	NP_001032420.1:n.2714-1614_2714-1572dup
NM_003159.3:c.2714-1614_2714-1572dup (CDKL5)	NP_003150.1:n.2714-1614_2714-1572dup