Canonical Allele Identifier: CA795530276
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1483637774
MyVariant Identifiers: chr4:g.4865001_4865002del (hg19) chr4:g.4863274_4863275del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863275_4863276del , CM000666.2:g.4863275_4863276del GRCh38
NC_000004.11:g.4865002_4865003del , CM000666.1:g.4865002_4865003del GRCh37
NC_000004.10:g.4915903_4915904del NCBI36
NG_008121.1:g.8611_8612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*132_*133del MANE Select ENSP00000372170.4:n.*132_*133del
ENST00000382723.4:c.*132_*133del ENSP00000372170.4:n.*132_*133del
NM_002448.3:c.*132_*133del MANE Select NP_002439.2:n.*132_*133del
Search 100 bp 5'
Search 100 bp 3'