Canonical Allele Identifier: CA2669788649

Gene: MSX1

Linked Data

• gnomAD v4: 4-4863221-C-CGGTGCCGAGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863223_4863224insTGCCGAGCAGGGG , CM000666.2:g.4863223_4863224insTGCCGAGCAGGGG	GRCh38
NC_000004.11:g.4864950_4864951insTGCCGAGCAGGGG , CM000666.1:g.4864950_4864951insTGCCGAGCAGGGG	GRCh37
NC_000004.10:g.4915851_4915852insTGCCGAGCAGGGG	NCBI36
NG_008121.1:g.8559_8560insTGCCGAGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.*80_*81insTGCCGAGCAGGGG MANE Select	ENSP00000372170.4:n.*80_*81insTGCCGAGCAGGGG
ENST00000382723.4:c.*80_*81insTGCCGAGCAGGGG	ENSP00000372170.4:n.*80_*81insTGCCGAGCAGGGG
NM_002448.3:c.*80_*81insTGCCGAGCAGGGG MANE Select	NP_002439.2:n.*80_*81insTGCCGAGCAGGGG