Canonical Allele Identifier: CA606703701
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1324997840
gnomAD v2: 12-91501052-GAA-G
gnomAD v3: 12-91107275-GAA-G
gnomAD v4: 12-91107275-GAA-G
MyVariant Identifiers: chr12:g.91501053_91501054del (hg19) chr12:g.91501054_91501092delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA (hg19) chr12:g.91107276_91107277del (hg38) chr12:g.91107277_91107315delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107277_91107278del , CM000674.2:g.91107277_91107278del GRCh38
NC_000012.11:g.91501054_91501055del , CM000674.1:g.91501054_91501055del GRCh37
NC_000012.10:g.90025185_90025186del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+841_862+842del MANE Select ENSP00000266718.4:n.862+841_862+842del
ENST00000266718.4:c.862+841_862+842del ENSP00000266718.4:n.862+841_862+842del
ENST00000546642.1:n.612+841_612+842del
ENST00000548071.1:n.255+841_255+842del
NM_002345.3:c.862+841_862+842del NP_002336.1:n.862+841_862+842del
NM_002345.4:c.862+841_862+842del MANE Select NP_002336.1:n.862+841_862+842del
Search 100 bp 5'
Search 100 bp 3'