Canonical Allele Identifier: CA2738434651

Gene: CDKL5

Linked Data

• dbSNP Id: rs2147167424

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613111_18613112insT , CM000685.2:g.18613111_18613112insT	GRCh38
NC_000023.10:g.18631231_18631232insT , CM000685.1:g.18631231_18631232insT	GRCh37
NC_000023.9:g.18541152_18541153insT	NCBI36
NG_008475.1:g.192507_192508insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-41_2153-40insT MANE Select	ENSP00000485244.1:n.2153-41_2153-40insT
ENST00000635828.1:c.2153-41_2153-40insT	ENSP00000490170.1:n.2153-41_2153-40insT
ENST00000674046.1:c.2153-41_2153-40insT	ENSP00000501174.1:n.2153-41_2153-40insT
ENST00000379989.6:c.2153-41_2153-40insT	ENSP00000369325.3:n.2153-41_2153-40insT
ENST00000379996.7:c.2153-41_2153-40insT	ENSP00000369332.3:n.2153-41_2153-40insT
ENST00000463994.4:c.2153-41_2153-40insT	ENSP00000485184.1:n.2153-41_2153-40insT
ENST00000623535.1:c.2153-41_2153-40insT	ENSP00000485244.1:n.2153-41_2153-40insT
NM_001037343.1:c.2153-41_2153-40insT	NP_001032420.1:n.2153-41_2153-40insT
NM_003159.2:c.2153-41_2153-40insT	NP_003150.1:n.2153-41_2153-40insT
XM_011545569.1:c.2102-41_2102-40insT	XP_011543871.1:n.2102-41_2102-40insT
XM_011545570.1:c.2021-41_2021-40insT	XP_011543872.1:n.2021-41_2021-40insT
XR_950484.1:n.2405-41_2405-40insT
NM_001323289.1:c.2153-41_2153-40insT	NP_001310218.1:n.2153-41_2153-40insT
NM_001323289.2:c.2153-41_2153-40insT MANE Select	NP_001310218.1:n.2153-41_2153-40insT
NM_001037343.2:c.2153-41_2153-40insT	NP_001032420.1:n.2153-41_2153-40insT
NM_003159.3:c.2153-41_2153-40insT	NP_003150.1:n.2153-41_2153-40insT