Canonical Allele Identifier: CA2833066
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs765964401
ExAC: 4:4864471 G / GCA
gnomAD v2: 4-4864471-G-GCA
gnomAD v3: 4-4862744-G-GCA
gnomAD v4: 4-4862744-G-GCA
MyVariant Identifiers: chr4:g.4864471_4864472insCA (hg19) chr4:g.4862744_4862745insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862744_4862745insCA , CM000666.2:g.4862744_4862745insCA GRCh38
NC_000004.11:g.4864471_4864472insCA , CM000666.1:g.4864471_4864472insCA GRCh37
NC_000004.10:g.4915372_4915373insCA NCBI36
NG_008121.1:g.8080_8081insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.513_514insCA MANE Select ENSP00000372170.4:p.Asn172GlnfsTer?
ENST00000382723.4:c.513_514insCA ENSP00000372170.4:p.Asn172GlnfsTer?
ENST00000468421.1:n.225_226insCA
NM_002448.3:c.513_514insCA MANE Select NP_002439.2:p.Asn172GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'