Canonical Allele Identifier: CA606703621

Gene: LUM

Linked Data

• dbSNP Id: rs1565758258
• gnomAD v2: 12-91501015-GGAA-G
• gnomAD v3: 12-91107238-GGAA-G
• gnomAD v4: 12-91107238-GGAA-G
• MyVariant Identifiers: chr12:g.91501016_91501019delinsA (hg19) ; chr12:g.91107239_91107242delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107239_91107241del , CM000674.2:g.91107239_91107241del	GRCh38
NC_000012.11:g.91501016_91501018del , CM000674.1:g.91501016_91501018del	GRCh37
NC_000012.10:g.90025147_90025149del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+877_862+879del MANE Select	ENSP00000266718.4:n.862+877_862+879del
ENST00000266718.4:c.862+877_862+879del	ENSP00000266718.4:n.862+877_862+879del
ENST00000546642.1:n.612+877_612+879del
ENST00000548071.1:n.255+877_255+879del
NM_002345.3:c.862+877_862+879del	NP_002336.1:n.862+877_862+879del
NM_002345.4:c.862+877_862+879del MANE Select	NP_002336.1:n.862+877_862+879del