Canonical Allele Identifier: CA2669788575
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863133-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863135del , CM000666.2:g.4863135del GRCh38
NC_000004.11:g.4864862del , CM000666.1:g.4864862del GRCh37
NC_000004.10:g.4915763del NCBI36
NG_008121.1:g.8471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.904del MANE Select ENSP00000372170.4:p.Leu302Ter
ENST00000382723.4:c.904del ENSP00000372170.4:p.Leu302Ter
NM_002448.3:c.904del MANE Select NP_002439.2:p.Leu302Ter