Canonical Allele Identifier: CA10605888

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 287828
• ClinVar RCV Id: RCV000309093
• dbSNP Id: rs886043742
• MyVariant Identifiers: chrX:g.18622152_18622153dupAA (hg19) ; chrX:g.18604032_18604033dupAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604032_18604033dup , CM000685.2:g.18604032_18604033dup	GRCh38
NC_000023.10:g.18622152_18622153dup , CM000685.1:g.18622152_18622153dup	GRCh37
NC_000023.9:g.18532073_18532074dup	NCBI36
NG_008475.1:g.183428_183429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1108_1109dup MANE Select	ENSP00000485244.1:p.Asn370LysfsTer?
ENST00000635828.1:c.1108_1109dup	ENSP00000490170.1:p.Asn370LysfsTer?
ENST00000637881.1:c.1108_1109dup	ENSP00000489879.1:p.Asn370LysfsTer?
ENST00000674046.1:c.1108_1109dup	ENSP00000501174.1:p.Asn370LysfsTer?
ENST00000379989.6:c.1108_1109dup	ENSP00000369325.3:p.Asn370LysfsTer?
ENST00000379996.7:c.1108_1109dup	ENSP00000369332.3:p.Asn370LysfsTer?
ENST00000463994.4:c.1108_1109dup	ENSP00000485184.1:p.Asn370LysfsTer?
ENST00000623535.1:c.1108_1109dup	ENSP00000485244.1:p.Asn370LysfsTer?
NM_001037343.1:c.1108_1109dup	NP_001032420.1:p.Asn370LysfsTer?
NM_003159.2:c.1108_1109dup	NP_003150.1:p.Asn370LysfsTer?
XM_011545569.1:c.1057_1058dup	XP_011543871.1:p.Asn353LysfsTer?
XM_011545570.1:c.976_977dup	XP_011543872.1:p.Asn326LysfsTer?
XR_950484.1:n.1360_1361dup
NM_001323289.1:c.1108_1109dup	NP_001310218.1:p.Asn370LysfsTer?
NM_001323289.2:c.1108_1109dup MANE Select	NP_001310218.1:p.Asn370LysfsTer?
NM_001037343.2:c.1108_1109dup	NP_001032420.1:p.Asn370LysfsTer?
NM_003159.3:c.1108_1109dup	NP_003150.1:p.Asn370LysfsTer?