Canonical Allele Identifier: CA2833149
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs751259025
ExAC: 4:4864883 C / CCAG
gnomAD v2: 4-4864883-C-CCAG
gnomAD v4: 4-4863156-C-CCAG
MyVariant Identifiers: chr4:g.4864883_4864884insCAG (hg19) chr4:g.4863156_4863157insCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863156_4863157insCAG , CM000666.2:g.4863156_4863157insCAG GRCh38
NC_000004.11:g.4864883_4864884insCAG , CM000666.1:g.4864883_4864884insCAG GRCh37
NC_000004.10:g.4915784_4915785insCAG NCBI36
NG_008121.1:g.8492_8493insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*13_*14insCAG MANE Select ENSP00000372170.4:n.*13_*14insCAG
ENST00000382723.4:c.*13_*14insCAG ENSP00000372170.4:n.*13_*14insCAG
NM_002448.3:c.*13_*14insCAG MANE Select NP_002439.2:n.*13_*14insCAG
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