Canonical Allele Identifier: CA606703661
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1310474227
gnomAD v2: 12-91501038-AAGAAAGAAAGAAAGAAAGAAAGAAAG-A
gnomAD v3: 12-91107261-AAGAAAGAAAGAAAGAAAGAAAGAAAG-A
gnomAD v4: 12-91107261-AAGAAAGAAAGAAAGAAAGAAAGAAAG-A
MyVariant Identifiers: chr12:g.91501039_91501064del (hg19) chr12:g.91107262_91107287del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107289_91107314del , CM000674.2:g.91107289_91107314del GRCh38
NC_000012.11:g.91501066_91501091del , CM000674.1:g.91501066_91501091del GRCh37
NC_000012.10:g.90025197_90025222del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+831_862+856del MANE Select ENSP00000266718.4:n.862+831_862+856del
ENST00000266718.4:c.862+831_862+856del ENSP00000266718.4:n.862+831_862+856del
ENST00000546642.1:n.612+831_612+856del
ENST00000548071.1:n.255+831_255+856del
NM_002345.3:c.862+831_862+856del NP_002336.1:n.862+831_862+856del
NM_002345.4:c.862+831_862+856del MANE Select NP_002336.1:n.862+831_862+856del
Search 100 bp 5'
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