Canonical Allele Identifier: CA2054318606

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107313_91107350delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA , CM000674.2:g.91107313_91107350delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	GRCh38
NC_000012.11:g.91501090_91501127delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA , CM000674.1:g.91501090_91501127delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	GRCh37
NC_000012.10:g.90025221_90025258delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTT...
ENST00000266718.4:c.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTT...
ENST00000546642.1:n.612+768_612+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+768_255+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_002336.1:n.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTC...
NM_002345.4:c.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+768_862+805delinsTTTCCCTTTCTTTCTTTCTTTCTTTC...