Canonical Allele Identifier: CA795529080
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1215187438
gnomAD v4: 4-4862295-TTCTG-T
MyVariant Identifiers: chr4:g.4864023_4864026del (hg19) chr4:g.4862296_4862299del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862296_4862299del , CM000666.2:g.4862296_4862299del GRCh38
NC_000004.11:g.4864023_4864026del , CM000666.1:g.4864023_4864026del GRCh37
NC_000004.10:g.4914924_4914927del NCBI36
NG_008121.1:g.7632_7635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-405_470-402del MANE Select ENSP00000372170.4:n.470-405_470-402del
ENST00000382723.4:c.470-405_470-402del ENSP00000372170.4:n.470-405_470-402del
NM_002448.3:c.470-405_470-402del MANE Select NP_002439.2:n.470-405_470-402del
Search 100 bp 5'
Search 100 bp 3'