Canonical Allele Identifier: CA2054318396

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107271_91107315delinsGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107271_91107315delinsGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501048_91501092delinsGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501048_91501092delinsGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025179_90025223delinsGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000266718.4:c.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000546642.1:n.612+803_612+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+803_255+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	NP_002336.1:n.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...
NM_002345.4:c.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+803_862+847delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...