Canonical Allele Identifier: CA2695211428

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693245dup , CM000671.2:g.126693245dup	GRCh38
NC_000009.11:g.129455524dup , CM000671.1:g.129455524dup	GRCh37
NC_000009.10:g.128495345dup	NCBI36
NG_017039.1:g.83803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.663dup	ENSP00000347684.5:p.Pro222ThrfsTer?
ENST00000373474.9:c.663dup MANE Select	ENSP00000362573.3:p.Pro222ThrfsTer?
ENST00000526117.6:c.663dup	ENSP00000436930.1:p.Pro222ThrfsTer?
ENST00000355497.9:c.663dup	ENSP00000347684.5:p.Pro222ThrfsTer?
ENST00000373474.8:c.663dup	ENSP00000362573.3:p.Pro222ThrfsTer?
ENST00000526117.5:c.663dup	ENSP00000436930.1:p.Pro222ThrfsTer?
ENST00000561065.1:c.594dup	ENSP00000453580.1:p.Pro199ThrfsTer?
NM_001174146.1:c.663dup	NP_001167617.1:p.Pro222ThrfsTer?
NM_001174147.1:c.663dup	NP_001167618.1:p.Pro222ThrfsTer?
NM_002316.3:c.663dup	NP_002307.2:p.Pro222ThrfsTer?
NM_001174146.2:c.663dup	NP_001167617.1:p.Pro222ThrfsTer?
NM_001174147.2:c.663dup MANE Select	NP_001167618.1:p.Pro222ThrfsTer?
NM_002316.4:c.663dup	NP_002307.2:p.Pro222ThrfsTer?