Canonical Allele Identifier: CA606703649
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1269676745
gnomAD v2: 12-91501032-GAAAGAAAGAAA-G
gnomAD v3: 12-91107255-GAAAGAAAGAAA-G
gnomAD v4: 12-91107255-GAAAGAAAGAAA-G
MyVariant Identifiers: chr12:g.91501033_91501043del (hg19) chr12:g.91501033_91501065delinsGAAAGAAAGAAAGAAAGAAAGA (hg19) chr12:g.91107256_91107266del (hg38) chr12:g.91107256_91107288delinsGAAAGAAAGAAAGAAAGAAAGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107256_91107266del , CM000674.2:g.91107256_91107266del GRCh38
NC_000012.11:g.91501033_91501043del , CM000674.1:g.91501033_91501043del GRCh37
NC_000012.10:g.90025164_90025174del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+852_862+862del MANE Select ENSP00000266718.4:n.862+852_862+862del
ENST00000266718.4:c.862+852_862+862del ENSP00000266718.4:n.862+852_862+862del
ENST00000546642.1:n.612+852_612+862del
ENST00000548071.1:n.255+852_255+862del
NM_002345.3:c.862+852_862+862del NP_002336.1:n.862+852_862+862del
NM_002345.4:c.862+852_862+862del MANE Select NP_002336.1:n.862+852_862+862del
Search 100 bp 5'
Search 100 bp 3'