Canonical Allele Identifier: CA163342

Gene: ADNP

Linked Data

• ClinVar Variation Id: 139632
• ClinVar RCV Id: RCV000128575 ; RCV000255626 ; RCV002312954
• dbSNP Id: rs587777523
• MyVariant Identifiers: chr20:g.49508752_49508755del (hg19) ; chr20:g.50892215_50892218del (hg38)
• PubMed: PMID:24531329 ; PMID:27054228

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50892219_50892222del , CM000682.2:g.50892219_50892222del	GRCh38
NC_000020.10:g.49508756_49508759del , CM000682.1:g.49508756_49508759del	GRCh37
NC_000020.9:g.48942163_48942166del	NCBI36
NG_034200.1:g.43773_43776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349014.8:c.2496_2499del	ENSP00000342905.3:p.Asn832LysfsTer?
ENST00000371602.9:c.2496_2499del	ENSP00000360662.2:p.Asn832LysfsTer?
ENST00000396029.8:c.2496_2499del	ENSP00000379346.3:p.Asn832LysfsTer?
ENST00000396032.8:c.2496_2499del	ENSP00000379349.2:p.Asn832LysfsTer?
ENST00000621696.5:c.2496_2499del MANE Select	ENSP00000483881.1:p.Asn832LysfsTer?
ENST00000644386.1:c.202-2261_202-2258del	ENSP00000493755.1:n.202-2261_202-2258del
ENST00000645081.1:c.1812_1815del	ENSP00000495540.1:p.Asn604LysfsTer?
ENST00000673732.1:c.2712_2715del	ENSP00000501294.1:p.Asn904LysfsTer?
ENST00000349014.7:c.2496_2499del	ENSP00000342905.3:p.Asn832LysfsTer?
ENST00000371602.8:c.2496_2499del	ENSP00000360662.2:p.Asn832LysfsTer?
ENST00000396029.7:c.2496_2499del	ENSP00000379346.3:p.Asn832LysfsTer?
ENST00000396032.7:c.2496_2499del	ENSP00000379349.2:p.Asn832LysfsTer?
ENST00000621696.4:c.2496_2499del	ENSP00000483881.1:p.Asn832LysfsTer?
NM_001282531.1:c.2496_2499del	NP_001269460.1:p.Asn832LysfsTer?
NM_001282532.1:c.2496_2499del	NP_001269461.1:p.Asn832LysfsTer?
NM_015339.3:c.2496_2499del	NP_056154.1:p.Asn832LysfsTer?
NM_181442.2:c.2496_2499del	NP_852107.1:p.Asn832LysfsTer?
XM_011528747.1:c.2496_2499del	XP_011527049.1:p.Asn832LysfsTer?
XM_011528748.1:c.2523_2526del	XP_011527050.1:p.Asn841LysfsTer?
NM_001282531.2:c.2496_2499del	NP_001269460.1:p.Asn832LysfsTer?
NM_001347511.1:c.2496_2499del	NP_001334440.1:p.Asn832LysfsTer?
NM_015339.4:c.2496_2499del	NP_056154.1:p.Asn832LysfsTer?
NM_181442.3:c.2496_2499del	NP_852107.1:p.Asn832LysfsTer?
XM_011528747.2:c.2496_2499del	XP_011527049.1:p.Asn832LysfsTer?
XM_011528748.2:c.2523_2526del	XP_011527050.1:p.Asn841LysfsTer?
XM_017027758.1:c.2496_2499del	XP_016883247.1:p.Asn832LysfsTer?
XM_017027759.1:c.2496_2499del	XP_016883248.1:p.Asn832LysfsTer?
NM_001282531.3:c.2496_2499del MANE Select	NP_001269460.1:p.Asn832LysfsTer?
NM_001347511.2:c.2496_2499del	NP_001334440.1:p.Asn832LysfsTer?
NM_015339.5:c.2496_2499del	NP_056154.1:p.Asn832LysfsTer?
NM_181442.4:c.2496_2499del	NP_852107.1:p.Asn832LysfsTer?
NM_001282532.2:c.2496_2499del	NP_001269461.1:p.Asn832LysfsTer?