Canonical Allele Identifier: CA2054318447

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107279_91107299delinsGAAAGAAAGAGAAAGAAAGAA , CM000674.2:g.91107279_91107299delinsGAAAGAAAGAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501056_91501076delinsGAAAGAAAGAGAAAGAAAGAA , CM000674.1:g.91501056_91501076delinsGAAAGAAAGAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025187_90025207delinsGAAAGAAAGAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTT...
ENST00000266718.4:c.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC	ENSP00000266718.4:n.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTT...
ENST00000546642.1:n.612+819_612+839delinsTTCTTTCTTTCTCTTTCTTTC
ENST00000548071.1:n.255+819_255+839delinsTTCTTTCTTTCTCTTTCTTTC
NM_002345.3:c.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC	NP_002336.1:n.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC
NM_002345.4:c.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC MANE Select	NP_002336.1:n.862+819_862+839delinsTTCTTTCTTTCTCTTTCTTTC