Canonical Allele Identifier: CA2691711516

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126615395-CGCATCCCGCCGTCTGCGAGGGCTGCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615398_126615424del , CM000671.2:g.126615398_126615424del	GRCh38
NC_000009.11:g.129377677_129377703del , CM000671.1:g.129377677_129377703del	GRCh37
NC_000009.10:g.128417498_128417524del	NCBI36
NG_017039.1:g.5956_5982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.155_181del	ENSP00000347684.5:p.His52_Gln60del
ENST00000373474.9:c.155_181del MANE Select	ENSP00000362573.3:p.His52_Gln60del
ENST00000526117.6:c.155_181del	ENSP00000436930.1:p.His52_Gln60del
ENST00000355497.9:c.155_181del	ENSP00000347684.5:p.His52_Gln60del
ENST00000373474.8:c.155_181del	ENSP00000362573.3:p.His52_Gln60del
ENST00000526117.5:c.155_181del	ENSP00000436930.1:p.His52_Gln60del
ENST00000561065.1:c.86_112del	ENSP00000453580.1:p.His29_Gln37del
NM_001174146.1:c.155_181del	NP_001167617.1:p.His52_Gln60del
NM_001174147.1:c.155_181del	NP_001167618.1:p.His52_Gln60del
NM_002316.3:c.155_181del	NP_002307.2:p.His52_Gln60del
NM_001174146.2:c.155_181del	NP_001167617.1:p.His52_Gln60del
NM_001174147.2:c.155_181del MANE Select	NP_001167618.1:p.His52_Gln60del
NM_002316.4:c.155_181del	NP_002307.2:p.His52_Gln60del