Canonical Allele Identifier: CA2833056
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs762477502
gnomAD v2: 4-4864437-GC-G
gnomAD v4: 4-4862710-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862716del , CM000666.2:g.4862716del GRCh38
NC_000004.11:g.4864443del , CM000666.1:g.4864443del GRCh37
NC_000004.10:g.4915344del NCBI36
NG_008121.1:g.8052del

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.485del MANE Select ENSP00000372170.4:p.Pro162GlnfsTer?
ENST00000382723.4:c.485del ENSP00000372170.4:p.Pro162GlnfsTer?
ENST00000468421.1:n.197del
NM_002448.3:c.485del MANE Select NP_002439.2:p.Pro162GlnfsTer?