Canonical Allele Identifier: CA2691711381

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126615272-TCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615275_126615341del , CM000671.2:g.126615275_126615341del	GRCh38
NC_000009.11:g.129377554_129377620del , CM000671.1:g.129377554_129377620del	GRCh37
NC_000009.10:g.128417375_128417441del	NCBI36
NG_017039.1:g.5833_5899del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.140-108_140-42del	ENSP00000347684.5:n.140-108_140-42del
ENST00000373474.9:c.140-108_140-42del MANE Select	ENSP00000362573.3:n.140-108_140-42del
ENST00000526117.6:c.140-108_140-42del	ENSP00000436930.1:n.140-108_140-42del
ENST00000355497.9:c.140-108_140-42del	ENSP00000347684.5:n.140-108_140-42del
ENST00000373474.8:c.140-108_140-42del	ENSP00000362573.3:n.140-108_140-42del
ENST00000526117.5:c.140-108_140-42del	ENSP00000436930.1:n.140-108_140-42del
ENST00000561065.1:c.71-108_71-42del	ENSP00000453580.1:n.71-108_71-42del
NM_001174146.1:c.140-108_140-42del	NP_001167617.1:n.140-108_140-42del
NM_001174147.1:c.140-108_140-42del	NP_001167618.1:n.140-108_140-42del
NM_002316.3:c.140-108_140-42del	NP_002307.2:n.140-108_140-42del
NM_001174146.2:c.140-108_140-42del	NP_001167617.1:n.140-108_140-42del
NM_001174147.2:c.140-108_140-42del MANE Select	NP_001167618.1:n.140-108_140-42del
NM_002316.4:c.140-108_140-42del	NP_002307.2:n.140-108_140-42del