Canonical Allele Identifier: CA693364203

Gene: LUM

Linked Data

• dbSNP Id: rs1347185443
• gnomAD v3: 12-91107303-A-AAGAAAG
• gnomAD v4: 12-91107303-A-AAGAAAG
• MyVariant Identifiers: chr12:g.91501080_91501081insAGAAAG (hg19) ; chr12:g.91107303_91107304insAGAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107305_91107310dup , CM000674.2:g.91107305_91107310dup	GRCh38
NC_000012.11:g.91501082_91501087dup , CM000674.1:g.91501082_91501087dup	GRCh37
NC_000012.10:g.90025213_90025218dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+809_862+814dup MANE Select	ENSP00000266718.4:n.862+809_862+814dup
ENST00000266718.4:c.862+809_862+814dup	ENSP00000266718.4:n.862+809_862+814dup
ENST00000546642.1:n.612+809_612+814dup
ENST00000548071.1:n.255+809_255+814dup
NM_002345.3:c.862+809_862+814dup	NP_002336.1:n.862+809_862+814dup
NM_002345.4:c.862+809_862+814dup MANE Select	NP_002336.1:n.862+809_862+814dup