Canonical Allele Identifier: CA2819901384

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598584_18598585insACACCCAACA , CM000685.2:g.18598584_18598585insACACCCAACA	GRCh38
NC_000023.10:g.18616704_18616705insACACCCAACA , CM000685.1:g.18616704_18616705insACACCCAACA	GRCh37
NC_000023.9:g.18526625_18526626insACACCCAACA	NCBI36
NG_008475.1:g.177980_177981insACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.948_949insACACCCAACA MANE Select	ENSP00000485244.1:p.His317ThrfsTer12
ENST00000635828.1:c.948_949insACACCCAACA	ENSP00000490170.1:p.His317ThrfsTer12
ENST00000637881.1:c.948_949insACACCCAACA	ENSP00000489879.1:p.His317ThrfsTer12
ENST00000674046.1:c.948_949insACACCCAACA	ENSP00000501174.1:p.His317ThrfsTer12
ENST00000379989.6:c.948_949insACACCCAACA	ENSP00000369325.3:p.His317ThrfsTer12
ENST00000379996.7:c.948_949insACACCCAACA	ENSP00000369332.3:p.His317ThrfsTer12
ENST00000463994.4:c.948_949insACACCCAACA	ENSP00000485184.1:p.His317ThrfsTer12
ENST00000623535.1:c.948_949insACACCCAACA	ENSP00000485244.1:p.His317ThrfsTer12
NM_001037343.1:c.948_949insACACCCAACA	NP_001032420.1:p.His317ThrfsTer12
NM_003159.2:c.948_949insACACCCAACA	NP_003150.1:p.His317ThrfsTer12
XM_011545569.1:c.926+22_926+23insACACCCAACA	XP_011543871.1:n.926+22_926+23insACACCCAACA
XM_011545570.1:c.816_817insACACCCAACA	XP_011543872.1:p.His273ThrfsTer12
XR_950484.1:n.1200_1201insACACCCAACA
NM_001323289.1:c.948_949insACACCCAACA	NP_001310218.1:p.His317ThrfsTer12
NM_001323289.2:c.948_949insACACCCAACA MANE Select	NP_001310218.1:p.His317ThrfsTer12
NM_001037343.2:c.948_949insACACCCAACA	NP_001032420.1:p.His317ThrfsTer12
NM_003159.3:c.948_949insACACCCAACA	NP_003150.1:p.His317ThrfsTer12