Canonical Allele Identifier: CA2695231349

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613153_18613154insGT , CM000685.2:g.18613153_18613154insGT	GRCh38
NC_000023.10:g.18631273_18631274insGT , CM000685.1:g.18631273_18631274insGT	GRCh37
NC_000023.9:g.18541194_18541195insGT	NCBI36
NG_008475.1:g.192549_192550insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2154_2155insGT MANE Select	ENSP00000485244.1:p.Pro719ValfsTer?
ENST00000635828.1:c.2154_2155insGT	ENSP00000490170.1:p.Pro719ValfsTer?
ENST00000674046.1:c.2154_2155insGT	ENSP00000501174.1:p.Pro719ValfsTer?
ENST00000379989.6:c.2154_2155insGT	ENSP00000369325.3:p.Pro719ValfsTer?
ENST00000379996.7:c.2154_2155insGT	ENSP00000369332.3:p.Pro719ValfsTer?
ENST00000463994.4:c.2154_2155insGT	ENSP00000485184.1:p.Pro719ValfsTer?
ENST00000623535.1:c.2154_2155insGT	ENSP00000485244.1:p.Pro719ValfsTer?
NM_001037343.1:c.2154_2155insGT	NP_001032420.1:p.Pro719ValfsTer?
NM_003159.2:c.2154_2155insGT	NP_003150.1:p.Pro719ValfsTer?
XM_011545569.1:c.2103_2104insGT	XP_011543871.1:p.Pro702ValfsTer?
XM_011545570.1:c.2022_2023insGT	XP_011543872.1:p.Pro675ValfsTer?
XR_950484.1:n.2406_2407insGT
NM_001323289.1:c.2154_2155insGT	NP_001310218.1:p.Pro719ValfsTer?
NM_001323289.2:c.2154_2155insGT MANE Select	NP_001310218.1:p.Pro719ValfsTer?
NM_001037343.2:c.2154_2155insGT	NP_001032420.1:p.Pro719ValfsTer?
NM_003159.3:c.2154_2155insGT	NP_003150.1:p.Pro719ValfsTer?