Canonical Allele Identifier: CA241230188
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs369300484
gnomAD v2: 12-91500976-A-AAG
gnomAD v3: 12-91107199-A-AAG
gnomAD v4: 12-91107199-A-AAG
MyVariant Identifiers: chr12:g.91500978_91500992delinsGAAAGAAAGAAAGAAAG (hg19) chr12:g.91500976_91500977insAG (hg19) chr12:g.91107201_91107215delinsGAAAGAAAGAAAGAAAG (hg38) chr12:g.91107199_91107200insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107200_91107201insGA , CM000674.2:g.91107200_91107201insGA GRCh38
NC_000012.11:g.91500977_91500978insGA , CM000674.1:g.91500977_91500978insGA GRCh37
NC_000012.10:g.90025108_90025109insGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+918_862+919insCT MANE Select ENSP00000266718.4:n.862+918_862+919insCT
ENST00000266718.4:c.862+918_862+919insCT ENSP00000266718.4:n.862+918_862+919insCT
ENST00000546642.1:n.612+918_612+919insCT
ENST00000548071.1:n.255+918_255+919insCT
NM_002345.3:c.862+918_862+919insCT NP_002336.1:n.862+918_862+919insCT
NM_002345.4:c.862+918_862+919insCT MANE Select NP_002336.1:n.862+918_862+919insCT
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