Canonical Allele Identifier: CA606703793
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1565758509
gnomAD v2: 12-91501086-GAAAGAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v3: 12-91107309-GAAAGAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v4: 12-91107309-GAAAGAAAGAAAGAAAGAAAGAAAGAA-G
MyVariant Identifiers: chr12:g.91501087_91501112del (hg19) chr12:g.91107310_91107335del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107311_91107336del , CM000674.2:g.91107311_91107336del GRCh38
NC_000012.11:g.91501088_91501113del , CM000674.1:g.91501088_91501113del GRCh37
NC_000012.10:g.90025219_90025244del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+783_862+808del MANE Select ENSP00000266718.4:n.862+783_862+808del
ENST00000266718.4:c.862+783_862+808del ENSP00000266718.4:n.862+783_862+808del
ENST00000546642.1:n.612+783_612+808del
ENST00000548071.1:n.255+783_255+808del
NM_002345.3:c.862+783_862+808del NP_002336.1:n.862+783_862+808del
NM_002345.4:c.862+783_862+808del MANE Select NP_002336.1:n.862+783_862+808del
Search 100 bp 5'
Search 100 bp 3'