Canonical Allele Identifier: CA2054318565
Gene: LUM HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107305_91107323delinsGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107305_91107323delinsGAAAGAAAGAAAGAAAGAA GRCh38
NC_000012.11:g.91501082_91501100delinsGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501082_91501100delinsGAAAGAAAGAAAGAAAGAA GRCh37
NC_000012.10:g.90025213_90025231delinsGAAAGAAAGAAAGAAAGAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+795_862+813delinsTTCTTTCTTTCTTTCTTTC MANE Select ENSP00000266718.4:n.862+795_862+813delins...
ENST00000266718.4:c.862+795_862+813delinsTTCTTTCTTTCTTTCTTTC ENSP00000266718.4:n.862+795_862+813delins...
ENST00000546642.1:n.612+795_612+813delinsTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+795_255+813delinsTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+795_862+813delinsTTCTTTCTTTCTTTCTTTC NP_002336.1:n.862+795_862+813delinsTTCTTT...
NM_002345.4:c.862+795_862+813delinsTTCTTTCTTTCTTTCTTTC MANE Select NP_002336.1:n.862+795_862+813delinsTTCTTT...
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