Canonical Allele Identifier: CA2620150138

Gene: LUM

Linked Data

• gnomAD v4: 12-91111339-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111345del , CM000674.2:g.91111345del	GRCh38
NC_000012.11:g.91505122del , CM000674.1:g.91505122del	GRCh37
NC_000012.10:g.90029253del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.-22+58del MANE Select	ENSP00000266718.4:n.-22+58del
ENST00000266718.4:c.-22+58del	ENSP00000266718.4:n.-22+58del
ENST00000546642.1:n.42+58del
ENST00000548071.1:n.89+58del
NM_002345.3:c.-22+58del	NP_002336.1:n.-22+58del
NM_002345.4:c.-22+58del MANE Select	NP_002336.1:n.-22+58del