Canonical Allele Identifier: CA950429840

Gene: LUM

Linked Data

• gnomAD v3: 12-91107287-G-GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA
• gnomAD v4: 12-91107287-G-GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107288_91107289insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA , CM000674.2:g.91107288_91107289insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	GRCh38
NC_000012.11:g.91501065_91501066insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA , CM000674.1:g.91501065_91501066insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	GRCh37
NC_000012.10:g.90025196_90025197insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT MANE Select	ENSP00000266718.4:n.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTT...
ENST00000266718.4:c.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT	ENSP00000266718.4:n.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTT...
ENST00000546642.1:n.612+830_612+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT
ENST00000548071.1:n.255+830_255+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT
NM_002345.3:c.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT	NP_002336.1:n.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTC...
NM_002345.4:c.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT MANE Select	NP_002336.1:n.862+830_862+831insTTCTTTCTTTCTTTCTCTTTCTTTCTTTC...