Canonical Allele Identifier: CA2573158464

Gene: RS1 CDKL5

Linked Data

• dbSNP Id: rs2147191376

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644597_18644598insTGGAGAGCCAGGCACAC , CM000685.2:g.18644597_18644598insTGGAGAGCCAGGCACAC	GRCh38
NC_000023.10:g.18662717_18662718insTGGAGAGCCAGGCACAC , CM000685.1:g.18662717_18662718insTGGAGAGCCAGGCACAC	GRCh37
NC_000023.9:g.18572638_18572639insTGGAGAGCCAGGCACAC	NCBI36
NG_008475.1:g.223993_223994insTGGAGAGCCAGGCACAC
NG_008659.3:g.37851_37852insGTGTGCCTGGCTCTCCA , LRG_702:g.37851_37852insGTGTGCCTGGCTCTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.354_355insGTGTGCCTGGCTCTCCA (RS1) MANE Select	ENSP00000369320.3:p.Ser119ValfsTer13
ENST00000379984.3:c.354_355insGTGTGCCTGGCTCTCCA (RS1)	ENSP00000369320.3:p.Ser119ValfsTer13
ENST00000379989.6:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	ENSP00000369325.3:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC
ENST00000379996.7:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	ENSP00000369332.3:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC
ENST00000476595.1:n.845_846insGTGTGCCTGGCTCTCCA (RS1)
NM_000330.3:c.354_355insGTGTGCCTGGCTCTCCA , LRG_702t1:c.354_355insGTGTGCCTGGCTCTCCA (RS1)	NP_000321.1:p.Ser119ValfsTer13
NM_001037343.1:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	NP_001032420.1:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC
NM_003159.2:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	NP_003150.1:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC
XM_011545569.1:c.2786-1410_2786-1409insTGGAGAGCCAGGCACAC (CDKL5)	XP_011543871.1:n.2786-1410_2786-1409insTGGAGAGCCAGGCACAC
XM_011545570.1:c.2705-1410_2705-1409insTGGAGAGCCAGGCACAC (CDKL5)	XP_011543872.1:n.2705-1410_2705-1409insTGGAGAGCCAGGCACAC
XR_950484.1:n.3089-1410_3089-1409insTGGAGAGCCAGGCACAC (CDKL5)
NM_000330.4:c.354_355insGTGTGCCTGGCTCTCCA (RS1) MANE Select	NP_000321.1:p.Ser119ValfsTer13
NM_001037343.2:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	NP_001032420.1:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC
NM_003159.3:c.2714-1410_2714-1409insTGGAGAGCCAGGCACAC (CDKL5)	NP_003150.1:n.2714-1410_2714-1409insTGGAGAGCCAGGCACAC