Canonical Allele Identifier: CA9908478

Gene: ADNP

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50891746C>T , CM000682.2:g.50891746C>T	GRCh38
NC_000020.10:g.49508283C>T , CM000682.1:g.49508283C>T	GRCh37
NC_000020.9:g.48941690C>T	NCBI36
NG_034200.1:g.44245G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001282531.3:c.2968G>A MANE Select	NP_001269460.1:p.Glu990Lys
ENST00000621696.5:c.2968G>A MANE Select	ENSP00000483881.1:p.Glu990Lys
NM_001282531.1:c.2968G>A	NP_001269460.1:p.Glu990Lys
NM_001282531.2:c.2968G>A	NP_001269460.1:p.Glu990Lys
NM_001282532.1:c.2968G>A	NP_001269461.1:p.Glu990Lys
NM_001282532.2:c.2968G>A	NP_001269461.1:p.Glu990Lys
NM_001347511.1:c.2968G>A	NP_001334440.1:p.Glu990Lys
NM_001347511.2:c.2968G>A	NP_001334440.1:p.Glu990Lys
NM_015339.3:c.2968G>A	NP_056154.1:p.Glu990Lys
NM_015339.4:c.2968G>A	NP_056154.1:p.Glu990Lys
NM_015339.5:c.2968G>A	NP_056154.1:p.Glu990Lys
NM_181442.2:c.2968G>A	NP_852107.1:p.Glu990Lys
NM_181442.3:c.2968G>A	NP_852107.1:p.Glu990Lys
NM_181442.4:c.2968G>A	NP_852107.1:p.Glu990Lys
ENST00000349014.7:c.2968G>A	ENSP00000342905.3:p.Glu990Lys
ENST00000349014.8:c.2968G>A	ENSP00000342905.3:p.Glu990Lys
ENST00000371602.8:c.2968G>A	ENSP00000360662.2:p.Glu990Lys
ENST00000371602.9:c.2968G>A	ENSP00000360662.2:p.Glu990Lys
ENST00000396029.7:c.2968G>A	ENSP00000379346.3:p.Glu990Lys
ENST00000396029.8:c.2968G>A	ENSP00000379346.3:p.Glu990Lys
ENST00000396032.7:c.2968G>A	ENSP00000379349.2:p.Glu990Lys
ENST00000396032.8:c.2968G>A	ENSP00000379349.2:p.Glu990Lys
ENST00000621696.4:c.2968G>A	ENSP00000483881.1:p.Glu990Lys
ENST00000644386.1:c.202-1789G>A	ENSP00000493755.1:n.202-1789G>A
ENST00000645081.1:c.2284G>A	ENSP00000495540.1:p.Glu762Lys
ENST00000673732.1:c.3184G>A	ENSP00000501294.1:p.Glu1062Lys
XM_011528747.1:c.2968G>A	XP_011527049.1:p.Glu990Lys
XM_011528747.2:c.2968G>A	XP_011527049.1:p.Glu990Lys
XM_011528748.1:c.2995G>A	XP_011527050.1:p.Glu999Lys
XM_011528748.2:c.2995G>A	XP_011527050.1:p.Glu999Lys
XM_017027758.1:c.2968G>A	XP_016883247.1:p.Glu990Lys
XM_017027759.1:c.2968G>A	XP_016883248.1:p.Glu990Lys