Canonical Allele Identifier: CA2819912966

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628553_18628554insAAACACACCCAAC , CM000685.2:g.18628553_18628554insAAACACACCCAAC	GRCh38
NC_000023.10:g.18646673_18646674insAAACACACCCAAC , CM000685.1:g.18646673_18646674insAAACACACCCAAC	GRCh37
NC_000023.9:g.18556594_18556595insAAACACACCCAAC	NCBI36
NG_008475.1:g.207949_207950insAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2679_2680insAAACACACCCAAC MANE Select	ENSP00000485244.1:p.Ala894LysfsTer?
ENST00000674046.1:c.2802_2803insAAACACACCCAAC	ENSP00000501174.1:p.Ala935LysfsTer?
ENST00000379989.6:c.2679_2680insAAACACACCCAAC	ENSP00000369325.3:p.Ala894LysfsTer20
ENST00000379996.7:c.2679_2680insAAACACACCCAAC	ENSP00000369332.3:p.Ala894LysfsTer20
ENST00000623535.1:c.2679_2680insAAACACACCCAAC	ENSP00000485244.1:p.Ala894LysfsTer?
NM_001037343.1:c.2679_2680insAAACACACCCAAC	NP_001032420.1:p.Ala894LysfsTer20
NM_003159.2:c.2679_2680insAAACACACCCAAC	NP_003150.1:p.Ala894LysfsTer20
XM_011545569.1:c.2751_2752insAAACACACCCAAC	XP_011543871.1:p.Ala918LysfsTer20
XM_011545570.1:c.2670_2671insAAACACACCCAAC	XP_011543872.1:p.Ala891LysfsTer20
XR_950484.1:n.3054_3055insAAACACACCCAAC
NM_001323289.1:c.2679_2680insAAACACACCCAAC	NP_001310218.1:p.Ala894LysfsTer?
NM_001323289.2:c.2679_2680insAAACACACCCAAC MANE Select	NP_001310218.1:p.Ala894LysfsTer?
NM_001037343.2:c.2679_2680insAAACACACCCAAC	NP_001032420.1:p.Ala894LysfsTer20
NM_003159.3:c.2679_2680insAAACACACCCAAC	NP_003150.1:p.Ala894LysfsTer20