Canonical Allele Identifier: CA2600912271
Gene: LUM HGNC NCBI

Linked Data

gnomAD v3: 12-91107380-A-AGAGGGAGG
gnomAD v4: 12-91107380-A-AGAGGGAGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107391_91107398dup , CM000674.2:g.91107391_91107398dup GRCh38
NC_000012.11:g.91501168_91501175dup , CM000674.1:g.91501168_91501175dup GRCh37
NC_000012.10:g.90025299_90025306dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+730_862+737dup MANE Select ENSP00000266718.4:n.862+730_862+737dup
ENST00000266718.4:c.862+730_862+737dup ENSP00000266718.4:n.862+730_862+737dup
ENST00000546642.1:n.612+730_612+737dup
ENST00000548071.1:n.255+730_255+737dup
NM_002345.3:c.862+730_862+737dup NP_002336.1:n.862+730_862+737dup
NM_002345.4:c.862+730_862+737dup MANE Select NP_002336.1:n.862+730_862+737dup
Search 100 bp 5'
Search 100 bp 3'