Canonical Allele Identifier: CA890570001

Gene: LMX1A

Linked Data

• dbSNP Id: rs1350219575
• MyVariant Identifiers: chr1:g.165288233_165288242del (hg19) ; chr1:g.165318996_165319005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165318997_165319006del , CM000663.2:g.165318997_165319006del	GRCh38
NC_000001.10:g.165288234_165288243del , CM000663.1:g.165288234_165288243del	GRCh37
NC_000001.9:g.163554858_163554867del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+34071_263+34080del	ENSP00000294816.2:n.263+34071_263+34080del
ENST00000342310.7:c.263+34071_263+34080del MANE Select	ENSP00000340226.3:n.263+34071_263+34080del
ENST00000367893.4:c.263+34071_263+34080del	ENSP00000356868.4:n.263+34071_263+34080del
NM_001174069.1:c.263+34071_263+34080del	NP_001167540.1:n.263+34071_263+34080del
NM_177398.3:c.263+34071_263+34080del	NP_796372.1:n.263+34071_263+34080del
XM_011509540.1:c.263+34071_263+34080del	XP_011507842.1:n.263+34071_263+34080del
XM_011509540.2:c.263+34071_263+34080del	XP_011507842.1:n.263+34071_263+34080del
NM_177398.4:c.263+34071_263+34080del MANE Select	NP_796372.1:n.263+34071_263+34080del
NM_001174069.2:c.263+34071_263+34080del	NP_001167540.1:n.263+34071_263+34080del