Canonical Allele Identifier: CA606703598

Gene: LUM

Linked Data

• dbSNP Id: rs1358621064
• gnomAD v2: 12-91500968-AGG-A
• gnomAD v3: 12-91107191-AGG-A
• gnomAD v4: 12-91107191-AGG-A
• MyVariant Identifiers: chr12:g.91500969_91500970del (hg19) ; chr12:g.91107192_91107193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107192_91107193del , CM000674.2:g.91107192_91107193del	GRCh38
NC_000012.11:g.91500969_91500970del , CM000674.1:g.91500969_91500970del	GRCh37
NC_000012.10:g.90025100_90025101del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+925_862+926del MANE Select	ENSP00000266718.4:n.862+925_862+926del
ENST00000266718.4:c.862+925_862+926del	ENSP00000266718.4:n.862+925_862+926del
ENST00000546642.1:n.612+925_612+926del
ENST00000548071.1:n.255+925_255+926del
NM_002345.3:c.862+925_862+926del	NP_002336.1:n.862+925_862+926del
NM_002345.4:c.862+925_862+926del MANE Select	NP_002336.1:n.862+925_862+926del