Canonical Allele Identifier: CA2833151
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs761025759
gnomAD v3: 4-4863169-GC-G
gnomAD v4: 4-4863169-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863171del , CM000666.2:g.4863171del GRCh38
NC_000004.11:g.4864898del , CM000666.1:g.4864898del GRCh37
NC_000004.10:g.4915799del NCBI36
NG_008121.1:g.8507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*28del MANE Select ENSP00000372170.4:n.*28del
ENST00000382723.4:c.*28del ENSP00000372170.4:n.*28del
NM_002448.3:c.*28del MANE Select NP_002439.2:n.*28del