Canonical Allele Identifier: CA549707244

Gene: MSX1

Linked Data

• dbSNP Id: rs1560310704
• gnomAD v2: 4-4864741-AGCTGTAGCGGCCGCGGCGGGTGCCTC-A
• gnomAD v4: 4-4863014-AGCTGTAGCGGCCGCGGCGGGTGCCTC-A
• MyVariant Identifiers: chr4:g.4864742_4864767del (hg19) ; chr4:g.4863015_4863040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863018_4863043del , CM000666.2:g.4863018_4863043del	GRCh38
NC_000004.11:g.4864745_4864770del , CM000666.1:g.4864745_4864770del	GRCh37
NC_000004.10:g.4915646_4915671del	NCBI36
NG_008121.1:g.8354_8379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.787_812del MANE Select	ENSP00000372170.4:p.Val263LeufsTer?
ENST00000382723.4:c.787_812del	ENSP00000372170.4:p.Val263LeufsTer?
NM_002448.3:c.787_812del MANE Select	NP_002439.2:p.Val263LeufsTer?