Canonical Allele Identifier: CA2054318549
Gene: LUM HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107301_91107323delinsGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107301_91107323delinsGAAAGAAAGAAAGAAAGAAAGAA GRCh38
NC_000012.11:g.91501078_91501100delinsGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501078_91501100delinsGAAAGAAAGAAAGAAAGAAAGAA GRCh37
NC_000012.10:g.90025209_90025231delinsGAAAGAAAGAAAGAAAGAAAGAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+795_862+817delinsTTCTTTCTTTCTTTCTTTCTTTC MANE Select ENSP00000266718.4:n.862+795_862+817delins...
ENST00000266718.4:c.862+795_862+817delinsTTCTTTCTTTCTTTCTTTCTTTC ENSP00000266718.4:n.862+795_862+817delins...
ENST00000546642.1:n.612+795_612+817delinsTTCTTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+795_255+817delinsTTCTTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+795_862+817delinsTTCTTTCTTTCTTTCTTTCTTTC NP_002336.1:n.862+795_862+817delinsTTCTTT...
NM_002345.4:c.862+795_862+817delinsTTCTTTCTTTCTTTCTTTCTTTC MANE Select NP_002336.1:n.862+795_862+817delinsTTCTTT...
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