Canonical Allele Identifier: CA640514475

Gene: RS1 CDKL5

Linked Data

• dbSNP Id: rs1569230060
• gnomAD v2: X-18665273-TA-T
• gnomAD v4: X-18647153-TA-T
• MyVariant Identifiers: chrX:g.18665274del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647157del , CM000685.2:g.18647157del	GRCh38
NC_000023.10:g.18665277del , CM000685.1:g.18665277del	GRCh37
NC_000023.9:g.18575198del	NCBI36
NG_008475.1:g.226553del
NG_008659.3:g.35295del , LRG_702:g.35295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.326+37del (RS1) MANE Select	ENSP00000369320.3:n.326+37del
ENST00000379984.3:c.326+37del (RS1)	ENSP00000369320.3:n.326+37del
ENST00000379989.6:c.2797+1067del (CDKL5)	ENSP00000369325.3:n.2797+1067del
ENST00000379996.7:c.2797+1067del (CDKL5)	ENSP00000369332.3:n.2797+1067del
ENST00000476595.1:n.817+37del (RS1)
NM_000330.3:c.326+37del , LRG_702t1:c.326+37del (RS1)	NP_000321.1:n.326+37del
NM_001037343.1:c.2797+1067del (CDKL5)	NP_001032420.1:n.2797+1067del
NM_003159.2:c.2797+1067del (CDKL5)	NP_003150.1:n.2797+1067del
XM_011545569.1:c.2869+1067del (CDKL5)	XP_011543871.1:n.2869+1067del
XM_011545570.1:c.2788+1067del (CDKL5)	XP_011543872.1:n.2788+1067del
XR_950484.1:n.3172+1067del (CDKL5)
NM_000330.4:c.326+37del (RS1) MANE Select	NP_000321.1:n.326+37del
NM_001037343.2:c.2797+1067del (CDKL5)	NP_001032420.1:n.2797+1067del
NM_003159.3:c.2797+1067del (CDKL5)	NP_003150.1:n.2797+1067del