Canonical Allele Identifier: CA2054318609

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107313_91107349delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA , CM000674.2:g.91107313_91107349delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA	GRCh38
NC_000012.11:g.91501090_91501126delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA , CM000674.1:g.91501090_91501126delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA	GRCh37
NC_000012.10:g.90025221_90025257delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTT...
ENST00000266718.4:c.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTT...
ENST00000546642.1:n.612+769_612+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+769_255+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_002336.1:n.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCT...
NM_002345.4:c.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+769_862+805delinsTTCCCTTTCTTTCTTTCTTTCTTTCT...