Canonical Allele Identifier: CA2054318445

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107279_91107323delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107279_91107323delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501056_91501100delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501056_91501100delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025187_90025231delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+795_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+795_862+839delins...
ENST00000266718.4:c.862+795_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	ENSP00000266718.4:n.862+795_862+839delins...
ENST00000546642.1:n.612+795_612+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
ENST00000548071.1:n.255+795_255+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
NM_002345.3:c.862+795_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	NP_002336.1:n.862+795_862+839delinsTTCTTT...
NM_002345.4:c.862+795_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select	NP_002336.1:n.862+795_862+839delinsTTCTTT...