Canonical Allele Identifier: CA693363759
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1249691135
gnomAD v3: 12-91107257-AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A
gnomAD v4: 12-91107257-AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A
MyVariant Identifiers: chr12:g.91501035_91501064del (hg19) chr12:g.91107258_91107287del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107289_91107318del , CM000674.2:g.91107289_91107318del GRCh38
NC_000012.11:g.91501066_91501095del , CM000674.1:g.91501066_91501095del GRCh37
NC_000012.10:g.90025197_90025226del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+831_862+860del MANE Select ENSP00000266718.4:n.862+831_862+860del
ENST00000266718.4:c.862+831_862+860del ENSP00000266718.4:n.862+831_862+860del
ENST00000546642.1:n.612+831_612+860del
ENST00000548071.1:n.255+831_255+860del
NM_002345.3:c.862+831_862+860del NP_002336.1:n.862+831_862+860del
NM_002345.4:c.862+831_862+860del MANE Select NP_002336.1:n.862+831_862+860del
Search 100 bp 5'
Search 100 bp 3'