Canonical Allele Identifier: CA640510443

Gene: CDKL5

Linked Data

• dbSNP Id: rs1360830896
• gnomAD v2: X-18638116-TAAC-T
• gnomAD v3: X-18619996-TAAC-T
• gnomAD v4: X-18619996-TAAC-T
• MyVariant Identifiers: chrX:g.18638117_18638119del (hg19) ; chrX:g.18619997_18619999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619998_18620000del , CM000685.2:g.18619998_18620000del	GRCh38
NC_000023.10:g.18638118_18638120del , CM000685.1:g.18638118_18638120del	GRCh37
NC_000023.9:g.18548039_18548041del	NCBI36
NG_008475.1:g.199394_199396del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+32_2376+34del MANE Select	ENSP00000485244.1:n.2376+32_2376+34del
ENST00000635828.1:c.2376+32_2376+34del	ENSP00000490170.1:n.2376+32_2376+34del
ENST00000674046.1:c.2376+32_2376+34del	ENSP00000501174.1:n.2376+32_2376+34del
ENST00000379989.6:c.2376+32_2376+34del	ENSP00000369325.3:n.2376+32_2376+34del
ENST00000379996.7:c.2376+32_2376+34del	ENSP00000369332.3:n.2376+32_2376+34del
ENST00000623535.1:c.2376+32_2376+34del	ENSP00000485244.1:n.2376+32_2376+34del
NM_001037343.1:c.2376+32_2376+34del	NP_001032420.1:n.2376+32_2376+34del
NM_003159.2:c.2376+32_2376+34del	NP_003150.1:n.2376+32_2376+34del
XM_011545569.1:c.2325+32_2325+34del	XP_011543871.1:n.2325+32_2325+34del
XM_011545570.1:c.2244+32_2244+34del	XP_011543872.1:n.2244+32_2244+34del
XR_950484.1:n.2628+32_2628+34del
NM_001323289.1:c.2376+32_2376+34del	NP_001310218.1:n.2376+32_2376+34del
NM_001323289.2:c.2376+32_2376+34del MANE Select	NP_001310218.1:n.2376+32_2376+34del
NM_001037343.2:c.2376+32_2376+34del	NP_001032420.1:n.2376+32_2376+34del
NM_003159.3:c.2376+32_2376+34del	NP_003150.1:n.2376+32_2376+34del