Canonical Allele Identifier: CA2693223268

Gene: CDKL5

Linked Data

• gnomAD v4: X-18619793-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619794_18619796del , CM000685.2:g.18619794_18619796del	GRCh38
NC_000023.10:g.18637914_18637916del , CM000685.1:g.18637914_18637916del	GRCh37
NC_000023.9:g.18547835_18547837del	NCBI36
NG_008475.1:g.199190_199192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2277-73_2277-71del MANE Select	ENSP00000485244.1:n.2277-73_2277-71del
ENST00000635828.1:c.2277-73_2277-71del	ENSP00000490170.1:n.2277-73_2277-71del
ENST00000674046.1:c.2277-73_2277-71del	ENSP00000501174.1:n.2277-73_2277-71del
ENST00000379989.6:c.2277-73_2277-71del	ENSP00000369325.3:n.2277-73_2277-71del
ENST00000379996.7:c.2277-73_2277-71del	ENSP00000369332.3:n.2277-73_2277-71del
ENST00000463994.4:c.2277-73_2277-71del	ENSP00000485184.1:n.2277-73_2277-71del
ENST00000623535.1:c.2277-73_2277-71del	ENSP00000485244.1:n.2277-73_2277-71del
NM_001037343.1:c.2277-73_2277-71del	NP_001032420.1:n.2277-73_2277-71del
NM_003159.2:c.2277-73_2277-71del	NP_003150.1:n.2277-73_2277-71del
XM_011545569.1:c.2226-73_2226-71del	XP_011543871.1:n.2226-73_2226-71del
XM_011545570.1:c.2145-73_2145-71del	XP_011543872.1:n.2145-73_2145-71del
XR_950484.1:n.2529-73_2529-71del
NM_001323289.1:c.2277-73_2277-71del	NP_001310218.1:n.2277-73_2277-71del
NM_001323289.2:c.2277-73_2277-71del MANE Select	NP_001310218.1:n.2277-73_2277-71del
NM_001037343.2:c.2277-73_2277-71del	NP_001032420.1:n.2277-73_2277-71del
NM_003159.3:c.2277-73_2277-71del	NP_003150.1:n.2277-73_2277-71del