Canonical Allele Identifier: CA640513915

Gene: RS1 CDKL5

Linked Data

• dbSNP Id: rs1457854545
• gnomAD v2: X-18662397-AAG-A
• gnomAD v3: X-18644277-AAG-A
• gnomAD v4: X-18644277-AAG-A
• MyVariant Identifiers: chrX:g.18662398_18662399del (hg19) ; chrX:g.18644278_18644279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644282_18644283del , CM000685.2:g.18644282_18644283del	GRCh38
NC_000023.10:g.18662402_18662403del , CM000685.1:g.18662402_18662403del	GRCh37
NC_000023.9:g.18572323_18572324del	NCBI36
NG_008475.1:g.223678_223679del
NG_008659.3:g.38170_38171del , LRG_702:g.38170_38171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.522+151_522+152del (RS1) MANE Select	ENSP00000369320.3:n.522+151_522+152del
ENST00000379984.3:c.522+151_522+152del (RS1)	ENSP00000369320.3:n.522+151_522+152del
ENST00000379989.6:c.2714-1725_2714-1724del (CDKL5)	ENSP00000369325.3:n.2714-1725_2714-1724del
ENST00000379996.7:c.2714-1725_2714-1724del (CDKL5)	ENSP00000369332.3:n.2714-1725_2714-1724del
ENST00000476595.1:n.1013+151_1013+152del (RS1)
NM_000330.3:c.522+151_522+152del , LRG_702t1:c.522+151_522+152del (RS1)	NP_000321.1:n.522+151_522+152del
NM_001037343.1:c.2714-1725_2714-1724del (CDKL5)	NP_001032420.1:n.2714-1725_2714-1724del
NM_003159.2:c.2714-1725_2714-1724del (CDKL5)	NP_003150.1:n.2714-1725_2714-1724del
XM_011545569.1:c.2786-1725_2786-1724del (CDKL5)	XP_011543871.1:n.2786-1725_2786-1724del
XM_011545570.1:c.2705-1725_2705-1724del (CDKL5)	XP_011543872.1:n.2705-1725_2705-1724del
XR_950484.1:n.3089-1725_3089-1724del (CDKL5)
NM_000330.4:c.522+151_522+152del (RS1) MANE Select	NP_000321.1:n.522+151_522+152del
NM_001037343.2:c.2714-1725_2714-1724del (CDKL5)	NP_001032420.1:n.2714-1725_2714-1724del
NM_003159.3:c.2714-1725_2714-1724del (CDKL5)	NP_003150.1:n.2714-1725_2714-1724del