Canonical Allele Identifier: CA658799607

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 520850
• ClinVar RCV Id: RCV000623570
• dbSNP Id: rs1555951954
• MyVariant Identifiers: chrX:g.18622151_18622164del (hg19) ; chrX:g.18604031_18604044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604031_18604044del , CM000685.2:g.18604031_18604044del	GRCh38
NC_000023.10:g.18622151_18622164del , CM000685.1:g.18622151_18622164del	GRCh37
NC_000023.9:g.18532072_18532085del	NCBI36
NG_008475.1:g.183427_183440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1107_1120del MANE Select	ENSP00000485244.1:p.Asn370Ter
ENST00000635828.1:c.1107_1120del	ENSP00000490170.1:p.Asn370Ter
ENST00000637881.1:c.1107_1120del	ENSP00000489879.1:p.Asn370Ter
ENST00000674046.1:c.1107_1120del	ENSP00000501174.1:p.Asn370Ter
ENST00000379989.6:c.1107_1120del	ENSP00000369325.3:p.Asn370Ter
ENST00000379996.7:c.1107_1120del	ENSP00000369332.3:p.Asn370Ter
ENST00000463994.4:c.1107_1120del	ENSP00000485184.1:p.Asn370Ter
ENST00000623535.1:c.1107_1120del	ENSP00000485244.1:p.Asn370Ter
NM_001037343.1:c.1107_1120del	NP_001032420.1:p.Asn370Ter
NM_003159.2:c.1107_1120del	NP_003150.1:p.Asn370Ter
XM_011545569.1:c.1056_1069del	XP_011543871.1:p.Asn353Ter
XM_011545570.1:c.975_988del	XP_011543872.1:p.Asn326Ter
XR_950484.1:n.1359_1372del
NM_001323289.1:c.1107_1120del	NP_001310218.1:p.Asn370Ter
NM_001323289.2:c.1107_1120del MANE Select	NP_001310218.1:p.Asn370Ter
NM_001037343.2:c.1107_1120del	NP_001032420.1:p.Asn370Ter
NM_003159.3:c.1107_1120del	NP_003150.1:p.Asn370Ter