Canonical Allele Identifier: CA2832528907
Gene: MSX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863132dup , CM000666.2:g.4863132dup GRCh38
NC_000004.11:g.4864859dup , CM000666.1:g.4864859dup GRCh37
NC_000004.10:g.4915760dup NCBI36
NG_008121.1:g.8468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.901dup MANE Select ENSP00000372170.4:p.His301ProfsTer?
ENST00000382723.4:c.901dup ENSP00000372170.4:p.His301ProfsTer?
NM_002448.3:c.901dup MANE Select NP_002439.2:p.His301ProfsTer?