Canonical Allele Identifier: CA2760244033

Gene: MSX1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862779_4862850del , CM000666.2:g.4862779_4862850del	GRCh38
NC_000004.11:g.4864506_4864577del , CM000666.1:g.4864506_4864577del	GRCh37
NC_000004.10:g.4915407_4915478del	NCBI36
NG_008121.1:g.8115_8186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.548_619del MANE Select	ENSP00000372170.4:p.Gln183_Ser207delinsArg
ENST00000382723.4:c.548_619del	ENSP00000372170.4:p.Gln183_Ser207delinsArg
ENST00000468421.1:n.260_331del
NM_002448.3:c.548_619del MANE Select	NP_002439.2:p.Gln183_Ser207delinsArg