Canonical Allele Identifier: CA606703801
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1565758523
gnomAD v2: 12-91501090-GAAAGAA-G
gnomAD v3: 12-91107313-GAAAGAA-G
gnomAD v4: 12-91107313-GAAAGAA-G
MyVariant Identifiers: chr12:g.91501092_91501127delinsGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA (hg19) chr12:g.91107315_91107350delinsGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107315_91107320del , CM000674.2:g.91107315_91107320del GRCh38
NC_000012.11:g.91501092_91501097del , CM000674.1:g.91501092_91501097del GRCh37
NC_000012.10:g.90025223_90025228del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+799_862+804del MANE Select ENSP00000266718.4:n.862+799_862+804del
ENST00000266718.4:c.862+799_862+804del ENSP00000266718.4:n.862+799_862+804del
ENST00000546642.1:n.612+799_612+804del
ENST00000548071.1:n.255+799_255+804del
NM_002345.3:c.862+799_862+804del NP_002336.1:n.862+799_862+804del
NM_002345.4:c.862+799_862+804del MANE Select NP_002336.1:n.862+799_862+804del
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