Canonical Allele Identifier: CA2573144036

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 1453257
• ClinVar RCV Id: RCV002000205
• dbSNP Id: rs2118823413

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615460del , CM000671.2:g.126615460del	GRCh38
NC_000009.11:g.129377739del , CM000671.1:g.129377739del	GRCh37
NC_000009.10:g.128417560del	NCBI36
NG_017039.1:g.6018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.217del	ENSP00000347684.5:p.Glu73SerfsTer?
ENST00000373474.9:c.217del MANE Select	ENSP00000362573.3:p.Glu73SerfsTer?
ENST00000526117.6:c.217del	ENSP00000436930.1:p.Glu73SerfsTer?
ENST00000355497.9:c.217del	ENSP00000347684.5:p.Glu73SerfsTer?
ENST00000373474.8:c.217del	ENSP00000362573.3:p.Glu73SerfsTer?
ENST00000526117.5:c.217del	ENSP00000436930.1:p.Glu73SerfsTer?
ENST00000561065.1:c.148del	ENSP00000453580.1:p.Glu50SerfsTer?
NM_001174146.1:c.217del	NP_001167617.1:p.Glu73SerfsTer?
NM_001174147.1:c.217del	NP_001167618.1:p.Glu73SerfsTer?
NM_002316.3:c.217del	NP_002307.2:p.Glu73SerfsTer?
NM_001174146.2:c.217del	NP_001167617.1:p.Glu73SerfsTer?
NM_001174147.2:c.217del MANE Select	NP_001167618.1:p.Glu73SerfsTer?
NM_002316.4:c.217del	NP_002307.2:p.Glu73SerfsTer?