Canonical Allele Identifier: CA2054318280

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107247_91107254delinsGAAAGAAA , CM000674.2:g.91107247_91107254delinsGAAAGAAA	GRCh38
NC_000012.11:g.91501024_91501031delinsGAAAGAAA , CM000674.1:g.91501024_91501031delinsGAAAGAAA	GRCh37
NC_000012.10:g.90025155_90025162delinsGAAAGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+864_862+871delinsTTTCTTTC MANE Select	ENSP00000266718.4:n.862+864_862+871delinsTTTCTTTC
ENST00000266718.4:c.862+864_862+871delinsTTTCTTTC	ENSP00000266718.4:n.862+864_862+871delinsTTTCTTTC
ENST00000546642.1:n.612+864_612+871delinsTTTCTTTC
ENST00000548071.1:n.255+864_255+871delinsTTTCTTTC
NM_002345.3:c.862+864_862+871delinsTTTCTTTC	NP_002336.1:n.862+864_862+871delinsTTTCTTTC
NM_002345.4:c.862+864_862+871delinsTTTCTTTC MANE Select	NP_002336.1:n.862+864_862+871delinsTTTCTTTC