Canonical Allele Identifier: CA950428751

Gene: LUM

Linked Data

• gnomAD v3: 12-91107040-G-GCACTTC
• gnomAD v4: 12-91107040-G-GCACTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107040_91107041insCACTTC , CM000674.2:g.91107040_91107041insCACTTC	GRCh38
NC_000012.11:g.91500817_91500818insCACTTC , CM000674.1:g.91500817_91500818insCACTTC	GRCh37
NC_000012.10:g.90024948_90024949insCACTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+1077_862+1078insGAAGTG MANE Select	ENSP00000266718.4:n.862+1077_862+1078insGAAGTG
ENST00000266718.4:c.862+1077_862+1078insGAAGTG	ENSP00000266718.4:n.862+1077_862+1078insGAAGTG
ENST00000546642.1:n.612+1077_612+1078insGAAGTG
ENST00000548071.1:n.255+1077_255+1078insGAAGTG
NM_002345.3:c.862+1077_862+1078insGAAGTG	NP_002336.1:n.862+1077_862+1078insGAAGTG
NM_002345.4:c.862+1077_862+1078insGAAGTG MANE Select	NP_002336.1:n.862+1077_862+1078insGAAGTG