Canonical Allele Identifier: CA2417974192
Gene: CDKL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603484_18603485delinsTA , CM000685.2:g.18603484_18603485delinsTA GRCh38
NC_000023.10:g.18621604_18621605delinsTA , CM000685.1:g.18621604_18621605delinsTA GRCh37
NC_000023.9:g.18531525_18531526delinsTA NCBI36
NG_008475.1:g.182880_182881delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.978-418_978-417delinsTA MANE Select ENSP00000485244.1:n.978-418_978-417delinsTA
ENST00000635828.1:c.978-418_978-417delinsTA ENSP00000490170.1:n.978-418_978-417delinsTA
ENST00000637881.1:c.978-418_978-417delinsTA ENSP00000489879.1:n.978-418_978-417delinsTA
ENST00000674046.1:c.978-418_978-417delinsTA ENSP00000501174.1:n.978-418_978-417delinsTA
ENST00000379989.6:c.978-418_978-417delinsTA ENSP00000369325.3:n.978-418_978-417delinsTA
ENST00000379996.7:c.978-418_978-417delinsTA ENSP00000369332.3:n.978-418_978-417delinsTA
ENST00000463994.4:c.978-418_978-417delinsTA ENSP00000485184.1:n.978-418_978-417delinsTA
ENST00000623535.1:c.978-418_978-417delinsTA ENSP00000485244.1:n.978-418_978-417delinsTA
NM_001037343.1:c.978-418_978-417delinsTA NP_001032420.1:n.978-418_978-417delinsTA
NM_003159.2:c.978-418_978-417delinsTA NP_003150.1:n.978-418_978-417delinsTA
XM_011545569.1:c.927-418_927-417delinsTA XP_011543871.1:n.927-418_927-417delinsTA
XM_011545570.1:c.846-418_846-417delinsTA XP_011543872.1:n.846-418_846-417delinsTA
XR_950484.1:n.1230-418_1230-417delinsTA
NM_001323289.1:c.978-418_978-417delinsTA NP_001310218.1:n.978-418_978-417delinsTA
NM_001323289.2:c.978-418_978-417delinsTA MANE Select NP_001310218.1:n.978-418_978-417delinsTA
NM_001037343.2:c.978-418_978-417delinsTA NP_001032420.1:n.978-418_978-417delinsTA
NM_003159.3:c.978-418_978-417delinsTA NP_003150.1:n.978-418_978-417delinsTA