Canonical Allele Identifier: CA327353335

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18442498_18442512del , CM000685.2:g.18442498_18442512del	GRCh38
NC_000023.10:g.18460618_18460632del , CM000685.1:g.18460618_18460632del	GRCh37
NC_000023.9:g.18370539_18370553del	NCBI36
NG_008475.1:g.21894_21908del

Transcript Alleles

HGVS	Amino-acid Change
NM_001323289.2:c.-163+16803_-163+16817del MANE Select	NP_001310218.1:n.-163+16803_-163+16817del
ENST00000623535.2:c.-163+16803_-163+16817del MANE Select	ENSP00000485244.1:n.-163+16803_-163+16817del
NM_001037343.1:c.-163+75_-163+89del	NP_001032420.1:n.-163+75_-163+89del
NM_001037343.2:c.-163+75_-163+89del	NP_001032420.1:n.-163+75_-163+89del
NM_003159.2:c.-163+16803_-163+16817del	NP_003150.1:n.-163+16803_-163+16817del
NM_003159.3:c.-163+16803_-163+16817del	NP_003150.1:n.-163+16803_-163+16817del
ENST00000379989.6:c.-163+75_-163+89del	ENSP00000369325.3:n.-163+75_-163+89del
ENST00000379996.7:c.-163+16803_-163+16817del	ENSP00000369332.3:n.-163+16803_-163+16817del
ENST00000463994.4:c.-163+108_-163+122del	ENSP00000485184.1:n.-163+108_-163+122del
ENST00000623364.3:c.-215+75_-215+89del	ENSP00000485581.1:n.-215+75_-215+89del
ENST00000624700.3:c.-163+75_-163+89del	ENSP00000485359.1:n.-163+75_-163+89del
ENST00000624953.1:c.-304+75_-304+89del	ENSP00000485625.1:n.-304+75_-304+89del
ENST00000635828.1:c.-163+16097_-163+16111del	ENSP00000490170.1:n.-163+16097_-163+16111del
ENST00000637881.1:c.-163+15579_-163+15593del	ENSP00000489879.1:n.-163+15579_-163+15593del
ENST00000674046.1:c.-163+16803_-163+16817del	ENSP00000501174.1:n.-163+16803_-163+16817del
XM_011545569.1:c.-163+16803_-163+16817del	XP_011543871.1:n.-163+16803_-163+16817del
XM_011545570.1:c.-249+16803_-249+16817del	XP_011543872.1:n.-249+16803_-249+16817del
XR_950484.1:n.90+16803_90+16817del