Canonical Allele Identifier: CA2054318524

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107295_91107325delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000674.2:g.91107295_91107325delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh38
NC_000012.11:g.91501072_91501102delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000674.1:g.91501072_91501102delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh37
NC_000012.10:g.90025203_90025233delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+793_862+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT MANE Select	ENSP00000266718.4:n.862+793_862+823delins...
ENST00000266718.4:c.862+793_862+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSP00000266718.4:n.862+793_862+823delins...
ENST00000546642.1:n.612+793_612+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
ENST00000548071.1:n.255+793_255+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
NM_002345.3:c.862+793_862+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	NP_002336.1:n.862+793_862+823delinsCTTTCT...
NM_002345.4:c.862+793_862+823delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT MANE Select	NP_002336.1:n.862+793_862+823delinsCTTTCT...