Canonical Allele Identifier: CA10360502
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs747424635

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18613135_18613136insTTTTT , CM000685.2:g.18613135_18613136insTTTTT GRCh38
NC_000023.10:g.18631255_18631256insTTTTT , CM000685.1:g.18631255_18631256insTTTTT GRCh37
NC_000023.9:g.18541176_18541177insTTTTT NCBI36
NG_008475.1:g.192531_192532insTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2153-17_2153-16insTTTTT MANE Select ENSP00000485244.1:n.2153-17_2153-16insTTTTT
ENST00000635828.1:c.2153-17_2153-16insTTTTT ENSP00000490170.1:n.2153-17_2153-16insTTTTT
ENST00000674046.1:c.2153-17_2153-16insTTTTT ENSP00000501174.1:n.2153-17_2153-16insTTTTT
ENST00000379989.6:c.2153-17_2153-16insTTTTT ENSP00000369325.3:n.2153-17_2153-16insTTTTT
ENST00000379996.7:c.2153-17_2153-16insTTTTT ENSP00000369332.3:n.2153-17_2153-16insTTTTT
ENST00000463994.4:c.2153-17_2153-16insTTTTT ENSP00000485184.1:n.2153-17_2153-16insTTTTT
ENST00000623535.1:c.2153-17_2153-16insTTTTT ENSP00000485244.1:n.2153-17_2153-16insTTTTT
NM_001037343.1:c.2153-17_2153-16insTTTTT NP_001032420.1:n.2153-17_2153-16insTTTTT
NM_003159.2:c.2153-17_2153-16insTTTTT NP_003150.1:n.2153-17_2153-16insTTTTT
XM_011545569.1:c.2102-17_2102-16insTTTTT XP_011543871.1:n.2102-17_2102-16insTTTTT
XM_011545570.1:c.2021-17_2021-16insTTTTT XP_011543872.1:n.2021-17_2021-16insTTTTT
XR_950484.1:n.2405-17_2405-16insTTTTT
NM_001323289.1:c.2153-17_2153-16insTTTTT NP_001310218.1:n.2153-17_2153-16insTTTTT
NM_001323289.2:c.2153-17_2153-16insTTTTT MANE Select NP_001310218.1:n.2153-17_2153-16insTTTTT
NM_001037343.2:c.2153-17_2153-16insTTTTT NP_001032420.1:n.2153-17_2153-16insTTTTT
NM_003159.3:c.2153-17_2153-16insTTTTT NP_003150.1:n.2153-17_2153-16insTTTTT