Canonical Allele Identifier: CA201528835

Gene: LHX3

Linked Data

• dbSNP Id: rs1043851783
• gnomAD v3: 9-136197555-C-CG
• gnomAD v4: 9-136197555-C-CG
• MyVariant Identifiers: chr9:g.139089401_139089402insG (hg19) ; chr9:g.136197555_136197556insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197560dup , CM000671.2:g.136197560dup	GRCh38
NC_000009.11:g.139089406dup , CM000671.1:g.139089406dup	GRCh37
NC_000009.10:g.138229227dup	NCBI36
NG_008097.1:g.12554dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.978dup	ENSP00000360811.3:p.Ala327ArgfsTer?
ENST00000371748.10:c.963dup MANE Select	ENSP00000360813.4:p.Ala322ArgfsTer?
ENST00000645419.1:n.1788dup
ENST00000371746.7:c.978dup	ENSP00000360811.3:p.Ala327ArgfsTer?
ENST00000371748.9:c.963dup	ENSP00000360813.4:p.Ala322ArgfsTer?
ENST00000619587.1:c.930dup	ENSP00000483080.1:p.Ala311ArgfsTer?
NM_014564.3:c.978dup	NP_055379.1:p.Ala327ArgfsTer?
NM_178138.4:c.963dup	NP_835258.1:p.Ala322ArgfsTer?
XM_005263410.1:c.930dup	XP_005263467.1:p.Ala311ArgfsTer?
NM_001363746.1:c.930dup	NP_001350675.1:p.Ala311ArgfsTer?
NM_014564.4:c.978dup	NP_055379.1:p.Ala327ArgfsTer?
NM_178138.5:c.963dup	NP_835258.1:p.Ala322ArgfsTer?
XM_017015168.1:c.891dup	XP_016870657.1:p.Ala298ArgfsTer?
NM_178138.6:c.963dup MANE Select	NP_835258.1:p.Ala322ArgfsTer?
NM_014564.5:c.978dup	NP_055379.1:p.Ala327ArgfsTer?