Canonical Allele Identifier: CA950429633

Gene: LUM

Linked Data

• dbSNP Id: rs1880086922
• gnomAD v3: 12-91107283-GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• gnomAD v4: 12-91107283-GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107285_91107320del , CM000674.2:g.91107285_91107320del	GRCh38
NC_000012.11:g.91501062_91501097del , CM000674.1:g.91501062_91501097del	GRCh37
NC_000012.10:g.90025193_90025228del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+799_862+834del MANE Select	ENSP00000266718.4:n.862+799_862+834del
ENST00000266718.4:c.862+799_862+834del	ENSP00000266718.4:n.862+799_862+834del
ENST00000546642.1:n.612+799_612+834del
ENST00000548071.1:n.255+799_255+834del
NM_002345.3:c.862+799_862+834del	NP_002336.1:n.862+799_862+834del
NM_002345.4:c.862+799_862+834del MANE Select	NP_002336.1:n.862+799_862+834del