Canonical Allele Identifier: CA606703706
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1372701056
gnomAD v2: 12-91501054-A-AAG
gnomAD v3: 12-91107277-A-AAG
gnomAD v4: 12-91107277-A-AAG
MyVariant Identifiers: chr12:g.91501058_91501064delinsGAAAGAAAG (hg19) chr12:g.91501054_91501055insAG (hg19) chr12:g.91107281_91107287delinsGAAAGAAAG (hg38) chr12:g.91107277_91107278insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107279_91107280dup , CM000674.2:g.91107279_91107280dup GRCh38
NC_000012.11:g.91501056_91501057dup , CM000674.1:g.91501056_91501057dup GRCh37
NC_000012.10:g.90025187_90025188dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+839_862+840dup MANE Select ENSP00000266718.4:n.862+839_862+840dup
ENST00000266718.4:c.862+839_862+840dup ENSP00000266718.4:n.862+839_862+840dup
ENST00000546642.1:n.612+839_612+840dup
ENST00000548071.1:n.255+839_255+840dup
NM_002345.3:c.862+839_862+840dup NP_002336.1:n.862+839_862+840dup
NM_002345.4:c.862+839_862+840dup MANE Select NP_002336.1:n.862+839_862+840dup
Search 100 bp 5'
Search 100 bp 3'