Canonical Allele Identifier: CA16603321
Gene: LMX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 377264
ClinVar RCV Id: RCV000424540
dbSNP Id: rs1057520178
MyVariant Identifiers: chr9:g.129377807_129377811del (hg19) chr9:g.126615528_126615532del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615528_126615532del , CM000671.2:g.126615528_126615532del GRCh38
NC_000009.11:g.129377807_129377811del , CM000671.1:g.129377807_129377811del GRCh37
NC_000009.10:g.128417628_128417632del NCBI36
NG_017039.1:g.6086_6090del

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.285_289del ENSP00000347684.5:p.Tyr95Ter
ENST00000373474.9:c.285_289del MANE Select ENSP00000362573.3:p.Tyr95Ter
ENST00000526117.6:c.285_289del ENSP00000436930.1:p.Tyr95Ter
ENST00000355497.9:c.285_289del ENSP00000347684.5:p.Tyr95Ter
ENST00000373474.8:c.285_289del ENSP00000362573.3:p.Tyr95Ter
ENST00000526117.5:c.285_289del ENSP00000436930.1:p.Tyr95Ter
ENST00000561065.1:c.216_220del ENSP00000453580.1:p.Tyr72Ter
NM_001174146.1:c.285_289del NP_001167617.1:p.Tyr95Ter
NM_001174147.1:c.285_289del NP_001167618.1:p.Tyr95Ter
NM_002316.3:c.285_289del NP_002307.2:p.Tyr95Ter
NM_001174146.2:c.285_289del NP_001167617.1:p.Tyr95Ter
NM_001174147.2:c.285_289del MANE Select NP_001167618.1:p.Tyr95Ter
NM_002316.4:c.285_289del NP_002307.2:p.Tyr95Ter
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