Canonical Allele Identifier: CA2054318231
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107234_91107242delinsGAAAGGAAA , CM000674.2:g.91107234_91107242delinsGAAAGGAAA GRCh38
NC_000012.11:g.91501011_91501019delinsGAAAGGAAA , CM000674.1:g.91501011_91501019delinsGAAAGGAAA GRCh37
NC_000012.10:g.90025142_90025150delinsGAAAGGAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+876_862+884delinsTTTCCTTTC MANE Select ENSP00000266718.4:n.862+876_862+884delinsTTTCCTTTC
ENST00000266718.4:c.862+876_862+884delinsTTTCCTTTC ENSP00000266718.4:n.862+876_862+884delinsTTTCCTTTC
ENST00000546642.1:n.612+876_612+884delinsTTTCCTTTC
ENST00000548071.1:n.255+876_255+884delinsTTTCCTTTC
NM_002345.3:c.862+876_862+884delinsTTTCCTTTC NP_002336.1:n.862+876_862+884delinsTTTCCTTTC
NM_002345.4:c.862+876_862+884delinsTTTCCTTTC MANE Select NP_002336.1:n.862+876_862+884delinsTTTCCTTTC