Canonical Allele Identifier: CA241233881

Gene: LUM

Linked Data

• dbSNP Id: rs386377346
• gnomAD v2: 12-91505309-G-GGT
• gnomAD v3: 12-91111532-G-GGT
• gnomAD v4: 12-91111532-G-GGT
• MyVariant Identifiers: chr12:g.91505309_91505310insGT (hg19) ; chr12:g.91111532_91111533insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111534_91111535dup , CM000674.2:g.91111534_91111535dup	GRCh38
NC_000012.11:g.91505311_91505312dup , CM000674.1:g.91505311_91505312dup	GRCh37
NC_000012.10:g.90029442_90029443dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.4:c.-158_-157dup	ENSP00000266718.4:n.-158_-157dup
NM_002345.3:c.-158_-157dup	NP_002336.1:n.-158_-157dup