Canonical Allele Identifier: CA2669788574
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863086-GGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863089_4863090del , CM000666.2:g.4863089_4863090del GRCh38
NC_000004.11:g.4864816_4864817del , CM000666.1:g.4864816_4864817del GRCh37
NC_000004.10:g.4915717_4915718del NCBI36
NG_008121.1:g.8425_8426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.858_859del MANE Select ENSP00000372170.4:p.Pro287ArgfsTer?
ENST00000382723.4:c.858_859del ENSP00000372170.4:p.Pro287ArgfsTer?
NM_002448.3:c.858_859del MANE Select NP_002439.2:p.Pro287ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'