Canonical Allele Identifier: CA2600912262

Gene: LUM

Linked Data

• gnomAD v3: 12-91107311-AAGAAAGAAAGAAAGAAAG-A
• gnomAD v4: 12-91107311-AAGAAAGAAAGAAAGAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107313_91107330del , CM000674.2:g.91107313_91107330del	GRCh38
NC_000012.11:g.91501090_91501107del , CM000674.1:g.91501090_91501107del	GRCh37
NC_000012.10:g.90025221_90025238del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+789_862+806del MANE Select	ENSP00000266718.4:n.862+789_862+806del
ENST00000266718.4:c.862+789_862+806del	ENSP00000266718.4:n.862+789_862+806del
ENST00000546642.1:n.612+789_612+806del
ENST00000548071.1:n.255+789_255+806del
NM_002345.3:c.862+789_862+806del	NP_002336.1:n.862+789_862+806del
NM_002345.4:c.862+789_862+806del MANE Select	NP_002336.1:n.862+789_862+806del