Canonical Allele Identifier: CA606703604
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1555188581
gnomAD v2: 12-91501000-GA-G
gnomAD v3: 12-91107223-GA-G
gnomAD v4: 12-91107223-GA-G
MyVariant Identifiers: chr12:g.91501001del (hg19) chr12:g.91107224del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107225del , CM000674.2:g.91107225del GRCh38
NC_000012.11:g.91501002del , CM000674.1:g.91501002del GRCh37
NC_000012.10:g.90025133del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+894del MANE Select ENSP00000266718.4:n.862+894del
ENST00000266718.4:c.862+894del ENSP00000266718.4:n.862+894del
ENST00000546642.1:n.612+894del
ENST00000548071.1:n.255+894del
NM_002345.3:c.862+894del NP_002336.1:n.862+894del
NM_002345.4:c.862+894del MANE Select NP_002336.1:n.862+894del
Search 100 bp 5'
Search 100 bp 3'