Canonical Allele Identifier: CA549707247

Gene: MSX1

Linked Data

• gnomAD v2: 4-4861985-T-TG
• gnomAD v4: 4-4860258-T-TG
• MyVariant Identifiers: chr4:g.4861985_4861986insG (hg19) ; chr4:g.4860258_4860259insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860264dup , CM000666.2:g.4860264dup	GRCh38
NC_000004.11:g.4861991dup , CM000666.1:g.4861991dup	GRCh37
NC_000004.10:g.4912892dup	NCBI36
NG_008121.1:g.5600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.365dup MANE Select	ENSP00000372170.4:p.Leu123ThrfsTer?
ENST00000382723.4:c.365dup	ENSP00000372170.4:p.Leu123ThrfsTer?
NM_002448.3:c.365dup MANE Select	NP_002439.2:p.Leu123ThrfsTer?