Canonical Allele Identifier: CA2580098313

Gene: ADNP

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50892517_50892521delinsT , CM000682.2:g.50892517_50892521delinsT	GRCh38
NC_000020.10:g.49509054_49509058delinsT , CM000682.1:g.49509054_49509058delinsT	GRCh37
NC_000020.9:g.48942461_48942465delinsT	NCBI36
NG_034200.1:g.43470_43474delinsA

Transcript Alleles

HGVS	Amino-acid Change
NM_001282531.3:c.2193_2197delinsA MANE Select	NP_001269460.1:p.Leu732MetfsTer20
ENST00000621696.5:c.2193_2197delinsA MANE Select	ENSP00000483881.1:p.Leu732MetfsTer20
NM_001282531.1:c.2193_2197delinsA	NP_001269460.1:p.Leu732MetfsTer20
NM_001282531.2:c.2193_2197delinsA	NP_001269460.1:p.Leu732MetfsTer20
NM_001282532.1:c.2193_2197delinsA	NP_001269461.1:p.Leu732MetfsTer20
NM_001282532.2:c.2193_2197delinsA	NP_001269461.1:p.Leu732MetfsTer20
NM_001347511.1:c.2193_2197delinsA	NP_001334440.1:p.Leu732MetfsTer20
NM_001347511.2:c.2193_2197delinsA	NP_001334440.1:p.Leu732MetfsTer20
NM_015339.3:c.2193_2197delinsA	NP_056154.1:p.Leu732MetfsTer20
NM_015339.4:c.2193_2197delinsA	NP_056154.1:p.Leu732MetfsTer20
NM_015339.5:c.2193_2197delinsA	NP_056154.1:p.Leu732MetfsTer20
NM_181442.2:c.2193_2197delinsA	NP_852107.1:p.Leu732MetfsTer20
NM_181442.3:c.2193_2197delinsA	NP_852107.1:p.Leu732MetfsTer20
NM_181442.4:c.2193_2197delinsA	NP_852107.1:p.Leu732MetfsTer20
ENST00000349014.7:c.2193_2197delinsA	ENSP00000342905.3:p.Leu732MetfsTer20
ENST00000349014.8:c.2193_2197delinsA	ENSP00000342905.3:p.Leu732MetfsTer20
ENST00000371602.8:c.2193_2197delinsA	ENSP00000360662.2:p.Leu732MetfsTer20
ENST00000371602.9:c.2193_2197delinsA	ENSP00000360662.2:p.Leu732MetfsTer20
ENST00000396029.7:c.2193_2197delinsA	ENSP00000379346.3:p.Leu732MetfsTer20
ENST00000396029.8:c.2193_2197delinsA	ENSP00000379346.3:p.Leu732MetfsTer20
ENST00000396032.7:c.2193_2197delinsA	ENSP00000379349.2:p.Leu732MetfsTer20
ENST00000396032.8:c.2193_2197delinsA	ENSP00000379349.2:p.Leu732MetfsTer20
ENST00000621696.4:c.2193_2197delinsA	ENSP00000483881.1:p.Leu732MetfsTer20
ENST00000644386.1:c.202-2564_202-2560delinsA	ENSP00000493755.1:n.202-2564_202-2560delinsA
ENST00000645081.1:c.1509_1513delinsA	ENSP00000495540.1:p.Leu504MetfsTer20
ENST00000673732.1:c.2409_2413delinsA	ENSP00000501294.1:p.Leu804MetfsTer20
XM_011528747.1:c.2193_2197delinsA	XP_011527049.1:p.Leu732MetfsTer20
XM_011528747.2:c.2193_2197delinsA	XP_011527049.1:p.Leu732MetfsTer20
XM_011528748.1:c.2220_2224delinsA	XP_011527050.1:p.Leu741MetfsTer20
XM_011528748.2:c.2220_2224delinsA	XP_011527050.1:p.Leu741MetfsTer20
XM_017027758.1:c.2193_2197delinsA	XP_016883247.1:p.Leu732MetfsTer20
XM_017027759.1:c.2193_2197delinsA	XP_016883248.1:p.Leu732MetfsTer20