Canonical Allele Identifier: CA526927319

Gene: LMX1A

Linked Data

• dbSNP Id: rs1413612245
• gnomAD v2: 1-165288234-TCTCACA-T
• gnomAD v3: 1-165318997-TCTCACA-T
• gnomAD v4: 1-165318997-TCTCACA-T
• MyVariant Identifiers: chr1:g.165288235_165288240del (hg19) ; chr1:g.165318998_165319003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165318999_165319004del , CM000663.2:g.165318999_165319004del	GRCh38
NC_000001.10:g.165288236_165288241del , CM000663.1:g.165288236_165288241del	GRCh37
NC_000001.9:g.163554860_163554865del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+34073_263+34078del	ENSP00000294816.2:n.263+34073_263+34078del
ENST00000342310.7:c.263+34073_263+34078del MANE Select	ENSP00000340226.3:n.263+34073_263+34078del
ENST00000367893.4:c.263+34073_263+34078del	ENSP00000356868.4:n.263+34073_263+34078del
NM_001174069.1:c.263+34073_263+34078del	NP_001167540.1:n.263+34073_263+34078del
NM_177398.3:c.263+34073_263+34078del	NP_796372.1:n.263+34073_263+34078del
XM_011509540.1:c.263+34073_263+34078del	XP_011507842.1:n.263+34073_263+34078del
XM_011509540.2:c.263+34073_263+34078del	XP_011507842.1:n.263+34073_263+34078del
NM_177398.4:c.263+34073_263+34078del MANE Select	NP_796372.1:n.263+34073_263+34078del
NM_001174069.2:c.263+34073_263+34078del	NP_001167540.1:n.263+34073_263+34078del