Canonical Allele Identifier: CA1139768478
Gene: LMX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126690837_126696452del , CM000671.2:g.126690837_126696452del GRCh38
NC_000009.11:g.129453116_129458731del , CM000671.1:g.129453116_129458731del GRCh37
NC_000009.10:g.128492937_128498552del NCBI36
NG_017039.1:g.81395_87010del

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.328_*1del
ENST00000373474.9:c.328_*1del
ENST00000526117.6:c.328_*1del
ENST00000355497.9:c.328_*1del
ENST00000373474.8:c.328_*1del
ENST00000561065.1:c.259_*1del
NM_001174146.1:c.328_*1del
NM_001174147.1:c.328_*1del
NM_002316.3:c.328_*1del
NM_001174146.2:c.328_*1del
NM_001174147.2:c.328_*1del
NM_002316.4:c.328_*1del