Canonical Allele Identifier: CA606703796
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1565758505
gnomAD v2: 12-91501086-GAAA-G
gnomAD v3: 12-91107309-GAAA-G
gnomAD v4: 12-91107309-GAAA-G
MyVariant Identifiers: chr12:g.91501087_91501112delinsGAAAGAAAGAAAGAAAGAAAGAA (hg19) chr12:g.91107310_91107335delinsGAAAGAAAGAAAGAAAGAAAGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107310_91107312del , CM000674.2:g.91107310_91107312del GRCh38
NC_000012.11:g.91501087_91501089del , CM000674.1:g.91501087_91501089del GRCh37
NC_000012.10:g.90025218_90025220del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+806_862+808del MANE Select ENSP00000266718.4:n.862+806_862+808del
ENST00000266718.4:c.862+806_862+808del ENSP00000266718.4:n.862+806_862+808del
ENST00000546642.1:n.612+806_612+808del
ENST00000548071.1:n.255+806_255+808del
NM_002345.3:c.862+806_862+808del NP_002336.1:n.862+806_862+808del
NM_002345.4:c.862+806_862+808del MANE Select NP_002336.1:n.862+806_862+808del
Search 100 bp 5'
Search 100 bp 3'