Canonical Allele Identifier: CA950430218

Gene: LUM

Linked Data

• dbSNP Id: rs1880098791
• gnomAD v3: 12-91107325-GAAAGA-G
• gnomAD v4: 12-91107325-GAAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107328_91107332del , CM000674.2:g.91107328_91107332del	GRCh38
NC_000012.11:g.91501105_91501109del , CM000674.1:g.91501105_91501109del	GRCh37
NC_000012.10:g.90025236_90025240del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+788_862+792del MANE Select	ENSP00000266718.4:n.862+788_862+792del
ENST00000266718.4:c.862+788_862+792del	ENSP00000266718.4:n.862+788_862+792del
ENST00000546642.1:n.612+788_612+792del
ENST00000548071.1:n.255+788_255+792del
NM_002345.3:c.862+788_862+792del	NP_002336.1:n.862+788_862+792del
NM_002345.4:c.862+788_862+792del MANE Select	NP_002336.1:n.862+788_862+792del