Canonical Allele Identifier: CA2579562663
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507123del , CM000685.2:g.18507123del GRCh38
NC_000023.10:g.18525243del , CM000685.1:g.18525243del GRCh37
NC_000023.9:g.18435164del NCBI36
NG_008475.1:g.86519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.27del MANE Select ENSP00000485244.1:p.Met10Ter
ENST00000635828.1:c.27del ENSP00000490170.1:p.Met10Ter
ENST00000637881.1:c.27del ENSP00000489879.1:p.Met10Ter
ENST00000674046.1:c.27del ENSP00000501174.1:p.Met10Ter
ENST00000379989.6:c.27del ENSP00000369325.3:p.Met10Ter
ENST00000379996.7:c.27del ENSP00000369332.3:p.Met10Ter
ENST00000463994.4:c.27del ENSP00000485184.1:p.Met10Ter
ENST00000623364.3:c.27del ENSP00000485581.1:p.Met10Ter
ENST00000623535.1:c.27del ENSP00000485244.1:p.Met10Ter
ENST00000624700.3:c.27del ENSP00000485359.1:p.Met10Ter
ENST00000624953.1:c.27del ENSP00000485625.1:p.Met10Ter
NM_001037343.1:c.27del NP_001032420.1:p.Met10Ter
NM_003159.2:c.27del NP_003150.1:p.Met10Ter
XM_011545569.1:c.27del XP_011543871.1:p.Met10Ter
XM_011545570.1:c.-60del XP_011543872.1:n.-60del
XR_950484.1:n.279del
NM_001323289.1:c.27del NP_001310218.1:p.Met10Ter
NM_001323289.2:c.27del MANE Select NP_001310218.1:p.Met10Ter
NM_001037343.2:c.27del NP_001032420.1:p.Met10Ter
NM_003159.3:c.27del NP_003150.1:p.Met10Ter
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