Canonical Allele Identifier: CA2586973672
Gene: MSX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862797_4862803dup , CM000666.2:g.4862797_4862803dup GRCh38
NC_000004.11:g.4864524_4864530dup , CM000666.1:g.4864524_4864530dup GRCh37
NC_000004.10:g.4915425_4915431dup NCBI36
NG_008121.1:g.8133_8139dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.566_572dup MANE Select ENSP00000372170.4:p.Phe191LeufsTer25
ENST00000382723.4:c.566_572dup ENSP00000372170.4:p.Phe191LeufsTer25
ENST00000468421.1:n.278_284dup
NM_002448.3:c.566_572dup MANE Select NP_002439.2:p.Phe191LeufsTer25
Search 100 bp 5'
Search 100 bp 3'