Canonical Allele Identifier: CA913190105

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 599397
• ClinVar RCV Id: RCV000736026
• dbSNP Id: rs1564169730

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693249del , CM000671.2:g.126693249del	GRCh38
NC_000009.11:g.129455528del , CM000671.1:g.129455528del	GRCh37
NC_000009.10:g.128495349del	NCBI36
NG_017039.1:g.83807del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.667del	ENSP00000347684.5:p.Arg223GlyfsTer?
ENST00000373474.9:c.667del MANE Select	ENSP00000362573.3:p.Arg223GlyfsTer?
ENST00000526117.6:c.667del	ENSP00000436930.1:p.Arg223GlyfsTer?
ENST00000355497.9:c.667del	ENSP00000347684.5:p.Arg223GlyfsTer?
ENST00000373474.8:c.667del	ENSP00000362573.3:p.Arg223GlyfsTer?
ENST00000526117.5:c.667del	ENSP00000436930.1:p.Arg223GlyfsTer?
ENST00000561065.1:c.598del	ENSP00000453580.1:p.Arg200GlyfsTer?
NM_001174146.1:c.667del	NP_001167617.1:p.Arg223GlyfsTer?
NM_001174147.1:c.667del	NP_001167618.1:p.Arg223GlyfsTer?
NM_002316.3:c.667del	NP_002307.2:p.Arg223GlyfsTer?
NM_001174146.2:c.667del	NP_001167617.1:p.Arg223GlyfsTer?
NM_001174147.2:c.667del MANE Select	NP_001167618.1:p.Arg223GlyfsTer?
NM_002316.4:c.667del	NP_002307.2:p.Arg223GlyfsTer?