Canonical Allele Identifier: CA2676572787

Gene: MSX2

Linked Data

• gnomAD v4: 5-174725097-G-GGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725097_174725098insGGGGA , CM000667.2:g.174725097_174725098insGGGGA	GRCh38
NC_000005.9:g.174152100_174152101insGGGGA , CM000667.1:g.174152100_174152101insGGGGA	GRCh37
NC_000005.8:g.174084706_174084707insGGGGA	NCBI36
NG_008124.1:g.5526_5527insGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+59_379+60insGGGGA MANE Select	ENSP00000239243.5:n.379+59_379+60insGGGGA
ENST00000239243.6:c.379+59_379+60insGGGGA	ENSP00000239243.5:n.379+59_379+60insGGGGA
ENST00000507785.2:c.*3+30_*3+31insGGGGA	ENSP00000427425.1:n.*3+30_*3+31insGGGGA
NM_002449.4:c.379+59_379+60insGGGGA	NP_002440.2:n.379+59_379+60insGGGGA
NM_001363626.1:c.*3+30_*3+31insGGGGA	NP_001350555.1:n.*3+30_*3+31insGGGGA
NM_002449.5:c.379+59_379+60insGGGGA MANE Select	NP_002440.2:n.379+59_379+60insGGGGA
NM_001363626.2:c.*3+30_*3+31insGGGGA	NP_001350555.1:n.*3+30_*3+31insGGGGA