Canonical Allele Identifier: CA2054318107
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107183_91107193delinsAAGAAAGAAGG , CM000674.2:g.91107183_91107193delinsAAGAAAGAAGG GRCh38
NC_000012.11:g.91500960_91500970delinsAAGAAAGAAGG , CM000674.1:g.91500960_91500970delinsAAGAAAGAAGG GRCh37
NC_000012.10:g.90025091_90025101delinsAAGAAAGAAGG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+925_862+935delinsCCTTCTTTCTT MANE Select ENSP00000266718.4:n.862+925_862+935delinsCCTTCTTTCTT
ENST00000266718.4:c.862+925_862+935delinsCCTTCTTTCTT ENSP00000266718.4:n.862+925_862+935delinsCCTTCTTTCTT
ENST00000546642.1:n.612+925_612+935delinsCCTTCTTTCTT
ENST00000548071.1:n.255+925_255+935delinsCCTTCTTTCTT
NM_002345.3:c.862+925_862+935delinsCCTTCTTTCTT NP_002336.1:n.862+925_862+935delinsCCTTCTTTCTT
NM_002345.4:c.862+925_862+935delinsCCTTCTTTCTT MANE Select NP_002336.1:n.862+925_862+935delinsCCTTCTTTCTT