Canonical Allele Identifier: CA693363959
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1319225202
gnomAD v3: 12-91107271-GAAAGAAAGAAAGAAAGAGAAAGAA-G
gnomAD v4: 12-91107271-GAAAGAAAGAAAGAAAGAGAAAGAA-G
MyVariant Identifiers: chr12:g.91501049_91501072del (hg19) chr12:g.91107272_91107295del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107273_91107296del , CM000674.2:g.91107273_91107296del GRCh38
NC_000012.11:g.91501050_91501073del , CM000674.1:g.91501050_91501073del GRCh37
NC_000012.10:g.90025181_90025204del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+823_862+846del MANE Select ENSP00000266718.4:n.862+823_862+846del
ENST00000266718.4:c.862+823_862+846del ENSP00000266718.4:n.862+823_862+846del
ENST00000546642.1:n.612+823_612+846del
ENST00000548071.1:n.255+823_255+846del
NM_002345.3:c.862+823_862+846del NP_002336.1:n.862+823_862+846del
NM_002345.4:c.862+823_862+846del MANE Select NP_002336.1:n.862+823_862+846del
Search 100 bp 5'
Search 100 bp 3'