Canonical Allele Identifier: CA2695211427
Gene: LMX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126693243del , CM000671.2:g.126693243del GRCh38
NC_000009.11:g.129455522del , CM000671.1:g.129455522del GRCh37
NC_000009.10:g.128495343del NCBI36
NG_017039.1:g.83801del

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.661del ENSP00000347684.5:p.Arg221AspfsTer?
ENST00000373474.9:c.661del MANE Select ENSP00000362573.3:p.Arg221AspfsTer?
ENST00000526117.6:c.661del ENSP00000436930.1:p.Arg221AspfsTer?
ENST00000355497.9:c.661del ENSP00000347684.5:p.Arg221AspfsTer?
ENST00000373474.8:c.661del ENSP00000362573.3:p.Arg221AspfsTer?
ENST00000526117.5:c.661del ENSP00000436930.1:p.Arg221AspfsTer?
ENST00000561065.1:c.592del ENSP00000453580.1:p.Arg198AspfsTer?
NM_001174146.1:c.661del NP_001167617.1:p.Arg221AspfsTer?
NM_001174147.1:c.661del NP_001167618.1:p.Arg221AspfsTer?
NM_002316.3:c.661del NP_002307.2:p.Arg221AspfsTer?
NM_001174146.2:c.661del NP_001167617.1:p.Arg221AspfsTer?
NM_001174147.2:c.661del MANE Select NP_001167618.1:p.Arg221AspfsTer?
NM_002316.4:c.661del NP_002307.2:p.Arg221AspfsTer?