Canonical Allele Identifier: CA2840860368
Gene: MSX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860310del , CM000666.2:g.4860310del GRCh38
NC_000004.11:g.4862037del , CM000666.1:g.4862037del GRCh37
NC_000004.10:g.4912938del NCBI36
NG_008121.1:g.5646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.411del MANE Select ENSP00000372170.4:p.Glu138ArgfsTer22
ENST00000382723.4:c.411del ENSP00000372170.4:p.Glu138ArgfsTer22
NM_002448.3:c.411del MANE Select NP_002439.2:p.Glu138ArgfsTer22
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