Canonical Allele Identifier: CA280909
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127273
ClinVar RCV Id: RCV000157079
dbSNP Id: rs515726227
MyVariant Identifiers: chr4:g.4864868_4864869dupTA (hg19) chr4:g.4863141_4863142dupTA (hg38)
PubMed: PMID:8696335 PMID:24914010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863141_4863142dup , CM000666.2:g.4863141_4863142dup GRCh38
NC_000004.11:g.4864868_4864869dup , CM000666.1:g.4864868_4864869dup GRCh37
NC_000004.10:g.4915769_4915770dup NCBI36
NG_008121.1:g.8477_8478dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.910_911dup MANE Select ENSP00000372170.4:p.Ter304TyrextTer?
ENST00000382723.4:c.910_911dup ENSP00000372170.4:p.Ter304TyrextTer?
NM_002448.3:c.910_911dup MANE Select NP_002439.2:p.Ter304TyrextTer?
Search 100 bp 5'
Search 100 bp 3'