Canonical Allele Identifier: CA950428770

Gene: LUM

Linked Data

• gnomAD v3: 12-91107046-T-TCAG
• gnomAD v4: 12-91107046-T-TCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107046_91107047insCAG , CM000674.2:g.91107046_91107047insCAG	GRCh38
NC_000012.11:g.91500823_91500824insCAG , CM000674.1:g.91500823_91500824insCAG	GRCh37
NC_000012.10:g.90024954_90024955insCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+1071_862+1072insCTG MANE Select	ENSP00000266718.4:n.862+1071_862+1072insCTG
ENST00000266718.4:c.862+1071_862+1072insCTG	ENSP00000266718.4:n.862+1071_862+1072insCTG
ENST00000546642.1:n.612+1071_612+1072insCTG
ENST00000548071.1:n.255+1071_255+1072insCTG
NM_002345.3:c.862+1071_862+1072insCTG	NP_002336.1:n.862+1071_862+1072insCTG
NM_002345.4:c.862+1071_862+1072insCTG MANE Select	NP_002336.1:n.862+1071_862+1072insCTG