Canonical Allele Identifier: CA2054318672
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107329_91107332delinsGAAA , CM000674.2:g.91107329_91107332delinsGAAA GRCh38
NC_000012.11:g.91501106_91501109delinsGAAA , CM000674.1:g.91501106_91501109delinsGAAA GRCh37
NC_000012.10:g.90025237_90025240delinsGAAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+786_862+789delinsTTTC MANE Select ENSP00000266718.4:n.862+786_862+789delinsTTTC
ENST00000266718.4:c.862+786_862+789delinsTTTC ENSP00000266718.4:n.862+786_862+789delinsTTTC
ENST00000546642.1:n.612+786_612+789delinsTTTC
ENST00000548071.1:n.255+786_255+789delinsTTTC
NM_002345.3:c.862+786_862+789delinsTTTC NP_002336.1:n.862+786_862+789delinsTTTC
NM_002345.4:c.862+786_862+789delinsTTTC MANE Select NP_002336.1:n.862+786_862+789delinsTTTC