Canonical Allele Identifier: CA606703858
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs199916366
gnomAD v2: 12-91501157-A-AGAGG
gnomAD v3: 12-91107380-A-AGAGG
gnomAD v4: 12-91107380-A-AGAGG
MyVariant Identifiers: chr12:g.91501161_91501162insGAGG (hg19) chr12:g.91501157_91501158insGAGG (hg19) chr12:g.91107384_91107385insGAGG (hg38) chr12:g.91107380_91107381insGAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107395_91107398dup , CM000674.2:g.91107395_91107398dup GRCh38
NC_000012.11:g.91501172_91501175dup , CM000674.1:g.91501172_91501175dup GRCh37
NC_000012.10:g.90025303_90025306dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+734_862+737dup MANE Select ENSP00000266718.4:n.862+734_862+737dup
ENST00000266718.4:c.862+734_862+737dup ENSP00000266718.4:n.862+734_862+737dup
ENST00000546642.1:n.612+734_612+737dup
ENST00000548071.1:n.255+734_255+737dup
NM_002345.3:c.862+734_862+737dup NP_002336.1:n.862+734_862+737dup
NM_002345.4:c.862+734_862+737dup MANE Select NP_002336.1:n.862+734_862+737dup
Search 100 bp 5'
Search 100 bp 3'