Canonical Allele Identifier: CA2417986485

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641996_18642021delinsGGCAGGCATCAGGCACACTTGCTGAC , CM000685.2:g.18641996_18642021delinsGGCAGGCATCAGGCACACTTGCTGAC	GRCh38
NC_000023.10:g.18660116_18660141delinsGGCAGGCATCAGGCACACTTGCTGAC , CM000685.1:g.18660116_18660141delinsGGCAGGCATCAGGCACACTTGCTGAC	GRCh37
NC_000023.9:g.18570037_18570062delinsGGCAGGCATCAGGCACACTTGCTGAC	NCBI36
NG_008475.1:g.221392_221417delinsGGCAGGCATCAGGCACACTTGCTGAC
NG_008659.3:g.40428_40453delinsGTCAGCAAGTGTGCCTGATGCCTGCC , LRG_702:g.40428_40453delinsGTCAGCAAGTGTGCCTGATGCCTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.658_*8delinsGTCAGCAAGTGTGCCTGATGCCTGCC (RS1) MANE Select	ENSP00000369320.3:n.[c.658_*8delinsGTCAGC...
ENST00000379984.3:c.658_*8delinsGTCAGCAAGTGTGCCTGATGCCTGCC (RS1)	ENSP00000369320.3:n.[c.658_*8delinsGTCAGC...
ENST00000379989.6:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	ENSP00000369325.3:n.2714-4011_2714-3986de...
ENST00000379996.7:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	ENSP00000369332.3:n.2714-4011_2714-3986de...
ENST00000476595.1:n.1149_1174delinsGTCAGCAAGTGTGCCTGATGCCTGCC (RS1)
NM_000330.3:c.658_*8delinsGTCAGCAAGTGTGCCTGATGCCTGCC , LRG_702t1:c.658_*8delinsGTCAGCAAGTGTGCCTGATGCCTGCC (RS1)	NP_000321.1:n.[c.658_*8delinsGTCAGCAAGTGT...
NM_001037343.1:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	NP_001032420.1:n.2714-4011_2714-3986delin...
NM_003159.2:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	NP_003150.1:n.2714-4011_2714-3986delinsGG...
XM_011545569.1:c.2786-4011_2786-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	XP_011543871.1:n.2786-4011_2786-3986delin...
XM_011545570.1:c.2705-4011_2705-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	XP_011543872.1:n.2705-4011_2705-3986delin...
XR_950484.1:n.3089-4011_3089-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)
NM_000330.4:c.658_*8delinsGTCAGCAAGTGTGCCTGATGCCTGCC (RS1) MANE Select	NP_000321.1:n.[c.658_*8delinsGTCAGCAAGTGT...
NM_001037343.2:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	NP_001032420.1:n.2714-4011_2714-3986delin...
NM_003159.3:c.2714-4011_2714-3986delinsGGCAGGCATCAGGCACACTTGCTGAC (CDKL5)	NP_003150.1:n.2714-4011_2714-3986delinsGG...