Canonical Allele Identifier: CA2417961996

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18564307_18564309delinsAAG , CM000685.2:g.18564307_18564309delinsAAG	GRCh38
NC_000023.10:g.18582427_18582429delinsAAG , CM000685.1:g.18582427_18582429delinsAAG	GRCh37
NC_000023.9:g.18492348_18492350delinsAAG	NCBI36
NG_008475.1:g.143703_143705delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.100-170_100-168delinsAAG MANE Select	ENSP00000485244.1:n.100-170_100-168delinsAAG
ENST00000635828.1:c.100-170_100-168delinsAAG	ENSP00000490170.1:n.100-170_100-168delinsAAG
ENST00000637881.1:c.100-170_100-168delinsAAG	ENSP00000489879.1:n.100-170_100-168delinsAAG
ENST00000674046.1:c.100-170_100-168delinsAAG	ENSP00000501174.1:n.100-170_100-168delinsAAG
ENST00000379989.6:c.100-170_100-168delinsAAG	ENSP00000369325.3:n.100-170_100-168delinsAAG
ENST00000379996.7:c.100-170_100-168delinsAAG	ENSP00000369332.3:n.100-170_100-168delinsAAG
ENST00000463994.4:c.100-170_100-168delinsAAG	ENSP00000485184.1:n.100-170_100-168delinsAAG
ENST00000623364.3:c.100-170_100-168delinsAAG	ENSP00000485581.1:n.100-170_100-168delinsAAG
ENST00000623535.1:c.100-170_100-168delinsAAG	ENSP00000485244.1:n.100-170_100-168delinsAAG
ENST00000624700.3:c.100-170_100-168delinsAAG	ENSP00000485359.1:n.100-170_100-168delinsAAG
NM_001037343.1:c.100-170_100-168delinsAAG	NP_001032420.1:n.100-170_100-168delinsAAG
NM_003159.2:c.100-170_100-168delinsAAG	NP_003150.1:n.100-170_100-168delinsAAG
XM_011545569.1:c.100-170_100-168delinsAAG	XP_011543871.1:n.100-170_100-168delinsAAG
XM_011545570.1:c.14-11047_14-11045delinsAAG	XP_011543872.1:n.14-11047_14-11045delinsAAG
XR_950484.1:n.352-170_352-168delinsAAG
NM_001323289.1:c.100-170_100-168delinsAAG	NP_001310218.1:n.100-170_100-168delinsAAG
NM_001323289.2:c.100-170_100-168delinsAAG MANE Select	NP_001310218.1:n.100-170_100-168delinsAAG
NM_001037343.2:c.100-170_100-168delinsAAG	NP_001032420.1:n.100-170_100-168delinsAAG
NM_003159.3:c.100-170_100-168delinsAAG	NP_003150.1:n.100-170_100-168delinsAAG