Canonical Allele Identifier: CA950429410

Gene: LUM

Linked Data

• gnomAD v3: 12-91107258-A-AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG
• gnomAD v4: 12-91107258-A-AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107268_91107269insGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA , CM000674.2:g.91107268_91107269insGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA	GRCh38
NC_000012.11:g.91501045_91501046insGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA , CM000674.1:g.91501045_91501046insGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA	GRCh37
NC_000012.10:g.90025176_90025177insGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTT...
ENST00000266718.4:c.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	ENSP00000266718.4:n.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTT...
ENST00000546642.1:n.612+859_612+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
ENST00000548071.1:n.255+859_255+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
NM_002345.3:c.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	NP_002336.1:n.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTT...
NM_002345.4:c.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select	NP_002336.1:n.862+859_862+860insCTTTCTTTCTTTCTTTCTTTCTTTCTCTT...