Canonical Allele Identifier: CA549389264
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1249748353
gnomAD v2: 4-4864926-A-AC
gnomAD v3: 4-4863199-A-AC
gnomAD v4: 4-4863199-A-AC
MyVariant Identifiers: chr4:g.4864926_4864927insC (hg19) chr4:g.4863199_4863200insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863204dup , CM000666.2:g.4863204dup GRCh38
NC_000004.11:g.4864931dup , CM000666.1:g.4864931dup GRCh37
NC_000004.10:g.4915832dup NCBI36
NG_008121.1:g.8540dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*61dup MANE Select ENSP00000372170.4:n.*61dup
ENST00000382723.4:c.*61dup ENSP00000372170.4:n.*61dup
NM_002448.3:c.*61dup MANE Select NP_002439.2:n.*61dup
Search 100 bp 5'
Search 100 bp 3'