Canonical Allele Identifier: CA2536767402

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598578_18598579insAC , CM000685.2:g.18598578_18598579insAC	GRCh38
NC_000023.10:g.18616698_18616699insAC , CM000685.1:g.18616698_18616699insAC	GRCh37
NC_000023.9:g.18526619_18526620insAC	NCBI36
NG_008475.1:g.177974_177975insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.942_943insAC MANE Select	ENSP00000485244.1:p.Pro315ThrfsTer?
ENST00000635828.1:c.942_943insAC	ENSP00000490170.1:p.Pro315ThrfsTer?
ENST00000637881.1:c.942_943insAC	ENSP00000489879.1:p.Pro315ThrfsTer?
ENST00000674046.1:c.942_943insAC	ENSP00000501174.1:p.Pro315ThrfsTer?
ENST00000379989.6:c.942_943insAC	ENSP00000369325.3:p.Pro315ThrfsTer?
ENST00000379996.7:c.942_943insAC	ENSP00000369332.3:p.Pro315ThrfsTer?
ENST00000463994.4:c.942_943insAC	ENSP00000485184.1:p.Pro315ThrfsTer?
ENST00000623535.1:c.942_943insAC	ENSP00000485244.1:p.Pro315ThrfsTer?
NM_001037343.1:c.942_943insAC	NP_001032420.1:p.Pro315ThrfsTer?
NM_003159.2:c.942_943insAC	NP_003150.1:p.Pro315ThrfsTer?
XM_011545569.1:c.926+16_926+17insAC	XP_011543871.1:n.926+16_926+17insAC
XM_011545570.1:c.810_811insAC	XP_011543872.1:p.Pro271ThrfsTer?
XR_950484.1:n.1194_1195insAC
NM_001323289.1:c.942_943insAC	NP_001310218.1:p.Pro315ThrfsTer?
NM_001323289.2:c.942_943insAC MANE Select	NP_001310218.1:p.Pro315ThrfsTer?
NM_001037343.2:c.942_943insAC	NP_001032420.1:p.Pro315ThrfsTer?
NM_003159.3:c.942_943insAC	NP_003150.1:p.Pro315ThrfsTer?