Canonical Allele Identifier: CA645509320

Gene: ADNP

Linked Data

• ClinVar Variation Id: 190279
• ClinVar RCV Id: RCV000170480
• dbSNP Id: rs1555810376
• MyVariant Identifiers: chr20:g.49510029_49510030del (hg19) ; chr20:g.50893492_50893493del (hg38)
• PubMed: PMID:25533962

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50893492_50893493del , CM000682.2:g.50893492_50893493del	GRCh38
NC_000020.10:g.49510029_49510030del , CM000682.1:g.49510029_49510030del	GRCh37
NC_000020.9:g.48943436_48943437del	NCBI36
NG_034200.1:g.42499_42500del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349014.8:c.1222_1223del	ENSP00000342905.3:p.Lys408ValfsTer?
ENST00000371602.9:c.1222_1223del	ENSP00000360662.2:p.Lys408ValfsTer?
ENST00000396029.8:c.1222_1223del	ENSP00000379346.3:p.Lys408ValfsTer?
ENST00000396032.8:c.1222_1223del	ENSP00000379349.2:p.Lys408ValfsTer?
ENST00000621696.5:c.1222_1223del MANE Select	ENSP00000483881.1:p.Lys408ValfsTer?
ENST00000644386.1:c.202-3535_202-3534del	ENSP00000493755.1:n.202-3535_202-3534del
ENST00000645081.1:c.538_539del	ENSP00000495540.1:p.Lys180ValfsTer?
ENST00000673732.1:c.1438_1439del	ENSP00000501294.1:p.Lys480ValfsTer?
ENST00000349014.7:c.1222_1223del	ENSP00000342905.3:p.Lys408ValfsTer?
ENST00000371602.8:c.1222_1223del	ENSP00000360662.2:p.Lys408ValfsTer?
ENST00000396029.7:c.1222_1223del	ENSP00000379346.3:p.Lys408ValfsTer?
ENST00000396032.7:c.1222_1223del	ENSP00000379349.2:p.Lys408ValfsTer?
ENST00000621696.4:c.1222_1223del	ENSP00000483881.1:p.Lys408ValfsTer?
NM_001282531.1:c.1222_1223del	NP_001269460.1:p.Lys408ValfsTer?
NM_001282532.1:c.1222_1223del	NP_001269461.1:p.Lys408ValfsTer?
NM_015339.3:c.1222_1223del	NP_056154.1:p.Lys408ValfsTer?
NM_181442.2:c.1222_1223del	NP_852107.1:p.Lys408ValfsTer?
XM_011528747.1:c.1222_1223del	XP_011527049.1:p.Lys408ValfsTer?
XM_011528748.1:c.1249_1250del	XP_011527050.1:p.Lys417ValfsTer?
NM_001282531.2:c.1222_1223del	NP_001269460.1:p.Lys408ValfsTer?
NM_001347511.1:c.1222_1223del	NP_001334440.1:p.Lys408ValfsTer?
NM_015339.4:c.1222_1223del	NP_056154.1:p.Lys408ValfsTer?
NM_181442.3:c.1222_1223del	NP_852107.1:p.Lys408ValfsTer?
XM_011528747.2:c.1222_1223del	XP_011527049.1:p.Lys408ValfsTer?
XM_011528748.2:c.1249_1250del	XP_011527050.1:p.Lys417ValfsTer?
XM_017027758.1:c.1222_1223del	XP_016883247.1:p.Lys408ValfsTer?
XM_017027759.1:c.1222_1223del	XP_016883248.1:p.Lys408ValfsTer?
NM_001282531.3:c.1222_1223del MANE Select	NP_001269460.1:p.Lys408ValfsTer?
NM_001347511.2:c.1222_1223del	NP_001334440.1:p.Lys408ValfsTer?
NM_015339.5:c.1222_1223del	NP_056154.1:p.Lys408ValfsTer?
NM_181442.4:c.1222_1223del	NP_852107.1:p.Lys408ValfsTer?
NM_001282532.2:c.1222_1223del	NP_001269461.1:p.Lys408ValfsTer?