Canonical Allele Identifier: CA915950765

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 817286
• ClinVar RCV Id: RCV001008405
• dbSNP Id: rs1602282705

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598543_18598544insCC , CM000685.2:g.18598543_18598544insCC	GRCh38
NC_000023.10:g.18616663_18616664insCC , CM000685.1:g.18616663_18616664insCC	GRCh37
NC_000023.9:g.18526584_18526585insCC	NCBI36
NG_008475.1:g.177939_177940insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.907_908insCC MANE Select	ENSP00000485244.1:p.Leu303ProfsTer?
ENST00000635828.1:c.907_908insCC	ENSP00000490170.1:p.Leu303ProfsTer?
ENST00000637881.1:c.907_908insCC	ENSP00000489879.1:p.Leu303ProfsTer?
ENST00000674046.1:c.907_908insCC	ENSP00000501174.1:p.Leu303ProfsTer?
ENST00000379989.6:c.907_908insCC	ENSP00000369325.3:p.Leu303ProfsTer?
ENST00000379996.7:c.907_908insCC	ENSP00000369332.3:p.Leu303ProfsTer?
ENST00000463994.4:c.907_908insCC	ENSP00000485184.1:p.Leu303ProfsTer?
ENST00000623535.1:c.907_908insCC	ENSP00000485244.1:p.Leu303ProfsTer?
NM_001037343.1:c.907_908insCC	NP_001032420.1:p.Leu303ProfsTer?
NM_003159.2:c.907_908insCC	NP_003150.1:p.Leu303ProfsTer?
XM_011545569.1:c.907_908insCC	XP_011543871.1:p.Leu303ProfsTer31
XM_011545570.1:c.775_776insCC	XP_011543872.1:p.Leu259ProfsTer?
XR_950484.1:n.1159_1160insCC
NM_001323289.1:c.907_908insCC	NP_001310218.1:p.Leu303ProfsTer?
NM_001323289.2:c.907_908insCC MANE Select	NP_001310218.1:p.Leu303ProfsTer?
NM_001037343.2:c.907_908insCC	NP_001032420.1:p.Leu303ProfsTer?
NM_003159.3:c.907_908insCC	NP_003150.1:p.Leu303ProfsTer?