Canonical Allele Identifier: CA795529076
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs973409461
gnomAD v3: 4-4862290-CCT-C
gnomAD v4: 4-4862290-CCT-C
MyVariant Identifiers: chr4:g.4864018_4864019del (hg19) chr4:g.4862291_4862292del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862293_4862294del , CM000666.2:g.4862293_4862294del GRCh38
NC_000004.11:g.4864020_4864021del , CM000666.1:g.4864020_4864021del GRCh37
NC_000004.10:g.4914921_4914922del NCBI36
NG_008121.1:g.7629_7630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-408_470-407del MANE Select ENSP00000372170.4:n.470-408_470-407del
ENST00000382723.4:c.470-408_470-407del ENSP00000372170.4:n.470-408_470-407del
NM_002448.3:c.470-408_470-407del MANE Select NP_002439.2:n.470-408_470-407del
Search 100 bp 5'
Search 100 bp 3'