Canonical Allele Identifier: CA950429072

Gene: LUM

Linked Data

• gnomAD v3: 12-91107199-A-AAAAGAAAGAAAGAAAGAAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAG
• gnomAD v4: 12-91107199-A-AAAAGAAAGAAAGAAAGAAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107216_91107217insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA , CM000674.2:g.91107216_91107217insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA	GRCh38
NC_000012.11:g.91500993_91500994insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA , CM000674.1:g.91500993_91500994insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA	GRCh37
NC_000012.10:g.90025124_90025125insAAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT MANE Select	ENSP00000266718.4:n.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTT...
ENST00000266718.4:c.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT	ENSP00000266718.4:n.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTT...
ENST00000546642.1:n.612+918_612+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT
ENST00000548071.1:n.255+918_255+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT
NM_002345.3:c.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT	NP_002336.1:n.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTC...
NM_002345.4:c.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT MANE Select	NP_002336.1:n.862+918_862+919insCTTTCCTTTCTTTCTTTCTTCTTTCTCTC...