Canonical Allele Identifier: CA481083487
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1412150937
gnomAD v2: 12-91501063-AG-A
gnomAD v3: 12-91107286-AG-A
gnomAD v4: 12-91107286-AG-A
MyVariant Identifiers: chr12:g.91501064del (hg19) chr12:g.91107287del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107287del , CM000674.2:g.91107287del GRCh38
NC_000012.11:g.91501064del , CM000674.1:g.91501064del GRCh37
NC_000012.10:g.90025195del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+831del MANE Select ENSP00000266718.4:n.862+831del
ENST00000266718.4:c.862+831del ENSP00000266718.4:n.862+831del
ENST00000546642.1:n.612+831del
ENST00000548071.1:n.255+831del
NM_002345.3:c.862+831del NP_002336.1:n.862+831del
NM_002345.4:c.862+831del MANE Select NP_002336.1:n.862+831del
Search 100 bp 5'
Search 100 bp 3'