Allele Registry

HGVS	Genome Assembly
NC_000023.11:g.18650407_18650410delinsCAGG , CM000685.2:g.18650407_18650410delinsCAGG	GRCh38
NC_000023.10:g.18668527_18668530delinsCAGG , CM000685.1:g.18668527_18668530delinsCAGG	GRCh37
NC_000023.9:g.18578448_18578451delinsCAGG	NCBI36
NG_008475.1:g.229803_229806delinsCAGG
NG_008659.3:g.32039_32042delinsCCTG , LRG_702:g.32039_32042delinsCCTG

HGVS	Amino-acid Change
ENST00000379984.4:c.185-3078_185-3075delinsCCTG (RS1) MANE Select	ENSP00000369320.3:n.185-3078_185-3075delinsCCTG
ENST00000673617.1:n.70-3_70delinsCAGG (CDKL5)
ENST00000379984.3:c.185-3078_185-3075delinsCCTG (RS1)	ENSP00000369320.3:n.185-3078_185-3075delinsCCTG
ENST00000379989.6:c.2798-3_2798delinsCAGG (CDKL5)
ENST00000379996.7:c.2798-3_2798delinsCAGG (CDKL5)
ENST00000476595.1:n.128_131delinsCCTG (RS1)
NM_000330.3:c.185-3078_185-3075delinsCCTG , LRG_702t1:c.185-3078_185-3075delinsCCTG (RS1)	NP_000321.1:n.185-3078_185-3075delinsCCTG
NM_001037343.1:c.2798-3_2798delinsCAGG (CDKL5)
NM_003159.2:c.2798-3_2798delinsCAGG (CDKL5)
XM_011545569.1:c.2870-3_2870delinsCAGG (CDKL5)
XM_011545570.1:c.2789-3_2789delinsCAGG (CDKL5)
XR_950484.1:n.3173-3_3173delinsCAGG (CDKL5)
NM_000330.4:c.185-3078_185-3075delinsCCTG (RS1) MANE Select	NP_000321.1:n.185-3078_185-3075delinsCCTG
NM_001037343.2:c.2798-3_2798delinsCAGG (CDKL5)
NM_003159.3:c.2798-3_2798delinsCAGG (CDKL5)