Canonical Allele Identifier: CA2054318123

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107189_91107199delinsGAAGGAAAGAA , CM000674.2:g.91107189_91107199delinsGAAGGAAAGAA	GRCh38
NC_000012.11:g.91500966_91500976delinsGAAGGAAAGAA , CM000674.1:g.91500966_91500976delinsGAAGGAAAGAA	GRCh37
NC_000012.10:g.90025097_90025107delinsGAAGGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+919_862+929delinsTTCTTTCCTTC MANE Select	ENSP00000266718.4:n.862+919_862+929delinsTTCTTTCCTTC
ENST00000266718.4:c.862+919_862+929delinsTTCTTTCCTTC	ENSP00000266718.4:n.862+919_862+929delinsTTCTTTCCTTC
ENST00000546642.1:n.612+919_612+929delinsTTCTTTCCTTC
ENST00000548071.1:n.255+919_255+929delinsTTCTTTCCTTC
NM_002345.3:c.862+919_862+929delinsTTCTTTCCTTC	NP_002336.1:n.862+919_862+929delinsTTCTTTCCTTC
NM_002345.4:c.862+919_862+929delinsTTCTTTCCTTC MANE Select	NP_002336.1:n.862+919_862+929delinsTTCTTTCCTTC