Canonical Allele Identifier: CA526927334
Gene: LMX1A HGNC NCBI

Linked Data

dbSNP Id: rs35582531
gnomAD v2: 1-165288236-T-TCACACA
gnomAD v3: 1-165318999-T-TCACACA
gnomAD v4: 1-165318999-T-TCACACA
MyVariant Identifiers: chr1:g.165288254_165288255insCACACA (hg19) chr1:g.165288236_165288237insCACACA (hg19) chr1:g.165319017_165319018insCACACA (hg38) chr1:g.165318999_165319000insCACACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165319037_165319042dup , CM000663.2:g.165319037_165319042dup GRCh38
NC_000001.10:g.165288274_165288279dup , CM000663.1:g.165288274_165288279dup GRCh37
NC_000001.9:g.163554898_163554903dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294816.6:c.263+34071_263+34076dup ENSP00000294816.2:n.263+34071_263+34076dup
ENST00000342310.7:c.263+34071_263+34076dup MANE Select ENSP00000340226.3:n.263+34071_263+34076dup
ENST00000367893.4:c.263+34071_263+34076dup ENSP00000356868.4:n.263+34071_263+34076dup
NM_001174069.1:c.263+34071_263+34076dup NP_001167540.1:n.263+34071_263+34076dup
NM_177398.3:c.263+34071_263+34076dup NP_796372.1:n.263+34071_263+34076dup
XM_011509540.1:c.263+34071_263+34076dup XP_011507842.1:n.263+34071_263+34076dup
XM_011509540.2:c.263+34071_263+34076dup XP_011507842.1:n.263+34071_263+34076dup
NM_177398.4:c.263+34071_263+34076dup MANE Select NP_796372.1:n.263+34071_263+34076dup
NM_001174069.2:c.263+34071_263+34076dup NP_001167540.1:n.263+34071_263+34076dup
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