Canonical Allele Identifier: CA2580079539

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2418959
• ClinVar RCV Id: RCV003112203

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615502_126615547del , CM000671.2:g.126615502_126615547del	GRCh38
NC_000009.11:g.129377781_129377826del , CM000671.1:g.129377781_129377826del	GRCh37
NC_000009.10:g.128417602_128417647del	NCBI36
NG_017039.1:g.6060_6105del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.259_304del	ENSP00000347684.5:p.Gln87ThrfsTer27
ENST00000373474.9:c.259_304del MANE Select	ENSP00000362573.3:p.Gln87ThrfsTer27
ENST00000526117.6:c.259_304del	ENSP00000436930.1:p.Gln87ThrfsTer27
ENST00000355497.9:c.259_304del	ENSP00000347684.5:p.Gln87ThrfsTer27
ENST00000373474.8:c.259_304del	ENSP00000362573.3:p.Gln87ThrfsTer27
ENST00000526117.5:c.259_304del	ENSP00000436930.1:p.Gln87ThrfsTer27
ENST00000561065.1:c.190_235del	ENSP00000453580.1:p.Gln64ThrfsTer27
NM_001174146.1:c.259_304del	NP_001167617.1:p.Gln87ThrfsTer27
NM_001174147.1:c.259_304del	NP_001167618.1:p.Gln87ThrfsTer27
NM_002316.3:c.259_304del	NP_002307.2:p.Gln87ThrfsTer27
NM_001174146.2:c.259_304del	NP_001167617.1:p.Gln87ThrfsTer27
NM_001174147.2:c.259_304del MANE Select	NP_001167618.1:p.Gln87ThrfsTer27
NM_002316.4:c.259_304del	NP_002307.2:p.Gln87ThrfsTer27