Canonical Allele Identifier: CA606703744

Gene: LUM

Linked Data

• dbSNP Id: rs1565758444
• gnomAD v2: 12-91501070-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• gnomAD v3: 12-91107293-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• gnomAD v4: 12-91107293-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• MyVariant Identifiers: chr12:g.91501071_91501100del (hg19) ; chr12:g.91107294_91107323del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107295_91107324del , CM000674.2:g.91107295_91107324del	GRCh38
NC_000012.11:g.91501072_91501101del , CM000674.1:g.91501072_91501101del	GRCh37
NC_000012.10:g.90025203_90025232del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+795_862+824del MANE Select	ENSP00000266718.4:n.862+795_862+824del
ENST00000266718.4:c.862+795_862+824del	ENSP00000266718.4:n.862+795_862+824del
ENST00000546642.1:n.612+795_612+824del
ENST00000548071.1:n.255+795_255+824del
NM_002345.3:c.862+795_862+824del	NP_002336.1:n.862+795_862+824del
NM_002345.4:c.862+795_862+824del MANE Select	NP_002336.1:n.862+795_862+824del