Canonical Allele Identifier: CA10654917
Gene: LMX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 369955
ClinVar RCV Id: RCV000408886
dbSNP Id: rs1057516196
MyVariant Identifiers: chr9:g.129377714dupC (hg19) chr9:g.126615435dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615435dup , CM000671.2:g.126615435dup GRCh38
NC_000009.11:g.129377714dup , CM000671.1:g.129377714dup GRCh37
NC_000009.10:g.128417535dup NCBI36
NG_017039.1:g.5993dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.192dup ENSP00000347684.5:p.Asp65ArgfsTer?
ENST00000373474.9:c.192dup MANE Select ENSP00000362573.3:p.Asp65ArgfsTer?
ENST00000526117.6:c.192dup ENSP00000436930.1:p.Asp65ArgfsTer?
ENST00000355497.9:c.192dup ENSP00000347684.5:p.Asp65ArgfsTer?
ENST00000373474.8:c.192dup ENSP00000362573.3:p.Asp65ArgfsTer?
ENST00000526117.5:c.192dup ENSP00000436930.1:p.Asp65ArgfsTer?
ENST00000561065.1:c.123dup ENSP00000453580.1:p.Asp42ArgfsTer?
NM_001174146.1:c.192dup NP_001167617.1:p.Asp65ArgfsTer?
NM_001174147.1:c.192dup NP_001167618.1:p.Asp65ArgfsTer?
NM_002316.3:c.192dup NP_002307.2:p.Asp65ArgfsTer?
NM_001174146.2:c.192dup NP_001167617.1:p.Asp65ArgfsTer?
NM_001174147.2:c.192dup MANE Select NP_001167618.1:p.Asp65ArgfsTer?
NM_002316.4:c.192dup NP_002307.2:p.Asp65ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'