Allele Registry

Canonical Allele Identifier: CA204423

Gene: MAOA HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrX:g.43731344_43731345insT

GRCh37 chrX:g.43590591_43590592insT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000190423

ClinVar Variation:

208352

dbSNP:

796065311

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.43731344_43731345insT , CM000685.2:g.43731344_43731345insT	GRCh38
NC_000023.10:g.43590591_43590592insT , CM000685.1:g.43590591_43590592insT	GRCh37
NC_000023.9:g.43475535_43475536insT	NCBI36
NG_008957.2:g.80184_80185insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542639.6:c.350_351insT	ENSP00000440846.1:p.Ser118LysfsTer2
ENST00000686683.1:c.59_60insT	ENSP00000509063.1:p.Ser21LysfsTer2
ENST00000686980.1:n.881_882insT
ENST00000688006.1:c.350_351insT	ENSP00000510311.1:p.Ser118LysfsTer2
ENST00000688859.1:n.305_306insT
ENST00000689087.1:c.350_351insT	ENSP00000508997.1:p.Ser118LysfsTer2
ENST00000693128.1:c.644_645insT	ENSP00000508493.1:p.Ser216LysfsTer2
ENST00000338702.4:c.749_750insT MANE Select	ENSP00000340684.3:p.Ser251LysfsTer2
ENST00000338702.3:c.749_750insT	ENSP00000340684.3:p.Ser251LysfsTer2
ENST00000497485.1:n.897_898insT
ENST00000542639.5:c.350_351insT	ENSP00000440846.1:p.Ser118LysfsTer2
NM_000240.3:c.749_750insT	NP_000231.1:p.Ser251LysfsTer2
NM_001270458.1:c.350_351insT	NP_001257387.1:p.Ser118LysfsTer2
NM_000240.4:c.749_750insT MANE Select	NP_000231.1:p.Ser251LysfsTer2
NM_001270458.2:c.350_351insT	NP_001257387.1:p.Ser118LysfsTer2

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