Canonical Allele Identifier: CA2054318582

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107309_91107350delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA , CM000674.2:g.91107309_91107350delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	GRCh38
NC_000012.11:g.91501086_91501127delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA , CM000674.1:g.91501086_91501127delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	GRCh37
NC_000012.10:g.90025217_90025258delinsGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTT...
ENST00000266718.4:c.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTT...
ENST00000546642.1:n.612+768_612+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+768_255+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_002336.1:n.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTC...
NM_002345.4:c.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+768_862+809delinsTTTCCCTTTCTTTCTTTCTTTCTTTC...