Canonical Allele Identifier: CA241230196
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs768861215
gnomAD v2: 12-91500993-AGAGAAAG-A
gnomAD v3: 12-91107216-AGAGAAAG-A
gnomAD v4: 12-91107216-AGAGAAAG-A
MyVariant Identifiers: chr12:g.91500994_91501000del (hg19) chr12:g.91107217_91107223del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107217_91107223del , CM000674.2:g.91107217_91107223del GRCh38
NC_000012.11:g.91500994_91501000del , CM000674.1:g.91500994_91501000del GRCh37
NC_000012.10:g.90025125_90025131del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+895_862+901del MANE Select ENSP00000266718.4:n.862+895_862+901del
ENST00000266718.4:c.862+895_862+901del ENSP00000266718.4:n.862+895_862+901del
ENST00000546642.1:n.612+895_612+901del
ENST00000548071.1:n.255+895_255+901del
NM_002345.3:c.862+895_862+901del NP_002336.1:n.862+895_862+901del
NM_002345.4:c.862+895_862+901del MANE Select NP_002336.1:n.862+895_862+901del
Search 100 bp 5'
Search 100 bp 3'