Canonical Allele Identifier: CA606703818
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1258197440
gnomAD v2: 12-91501106-GAAA-G
gnomAD v3: 12-91107329-GAAA-G
gnomAD v4: 12-91107329-GAAA-G
MyVariant Identifiers: chr12:g.91501107_91501109del (hg19) chr12:g.91107330_91107332del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107330_91107332del , CM000674.2:g.91107330_91107332del GRCh38
NC_000012.11:g.91501107_91501109del , CM000674.1:g.91501107_91501109del GRCh37
NC_000012.10:g.90025238_90025240del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+786_862+788del MANE Select ENSP00000266718.4:n.862+786_862+788del
ENST00000266718.4:c.862+786_862+788del ENSP00000266718.4:n.862+786_862+788del
ENST00000546642.1:n.612+786_612+788del
ENST00000548071.1:n.255+786_255+788del
NM_002345.3:c.862+786_862+788del NP_002336.1:n.862+786_862+788del
NM_002345.4:c.862+786_862+788del MANE Select NP_002336.1:n.862+786_862+788del
Search 100 bp 5'
Search 100 bp 3'