Canonical Allele Identifier: CA2054318114

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107185_91107199delinsGAAAGAAGGAAAGAA , CM000674.2:g.91107185_91107199delinsGAAAGAAGGAAAGAA	GRCh38
NC_000012.11:g.91500962_91500976delinsGAAAGAAGGAAAGAA , CM000674.1:g.91500962_91500976delinsGAAAGAAGGAAAGAA	GRCh37
NC_000012.10:g.90025093_90025107delinsGAAAGAAGGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+919_862+933delinsTTCTTTCCTTCTTTC MANE Select	ENSP00000266718.4:n.862+919_862+933delinsTTCTTTCCTTCTTTC
ENST00000266718.4:c.862+919_862+933delinsTTCTTTCCTTCTTTC	ENSP00000266718.4:n.862+919_862+933delinsTTCTTTCCTTCTTTC
ENST00000546642.1:n.612+919_612+933delinsTTCTTTCCTTCTTTC
ENST00000548071.1:n.255+919_255+933delinsTTCTTTCCTTCTTTC
NM_002345.3:c.862+919_862+933delinsTTCTTTCCTTCTTTC	NP_002336.1:n.862+919_862+933delinsTTCTTTCCTTCTTTC
NM_002345.4:c.862+919_862+933delinsTTCTTTCCTTCTTTC MANE Select	NP_002336.1:n.862+919_862+933delinsTTCTTTCCTTCTTTC