Canonical Allele Identifier: CA2695211121

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615466_126615474del , CM000671.2:g.126615466_126615474del	GRCh38
NC_000009.11:g.129377745_129377753del , CM000671.1:g.129377745_129377753del	GRCh37
NC_000009.10:g.128417566_128417574del	NCBI36
NG_017039.1:g.6024_6032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.223_231del	ENSP00000347684.5:p.Ser75_His77del
ENST00000373474.9:c.223_231del MANE Select	ENSP00000362573.3:p.Ser75_His77del
ENST00000526117.6:c.223_231del	ENSP00000436930.1:p.Ser75_His77del
ENST00000355497.9:c.223_231del	ENSP00000347684.5:p.Ser75_His77del
ENST00000373474.8:c.223_231del	ENSP00000362573.3:p.Ser75_His77del
ENST00000526117.5:c.223_231del	ENSP00000436930.1:p.Ser75_His77del
ENST00000561065.1:c.154_162del	ENSP00000453580.1:p.Ser52_His54del
NM_001174146.1:c.223_231del	NP_001167617.1:p.Ser75_His77del
NM_001174147.1:c.223_231del	NP_001167618.1:p.Ser75_His77del
NM_002316.3:c.223_231del	NP_002307.2:p.Ser75_His77del
NM_001174146.2:c.223_231del	NP_001167617.1:p.Ser75_His77del
NM_001174147.2:c.223_231del MANE Select	NP_001167618.1:p.Ser75_His77del
NM_002316.4:c.223_231del	NP_002307.2:p.Ser75_His77del