Canonical Allele Identifier: CA606703769
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1565758474
gnomAD v2: 12-91501078-GAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v3: 12-91107301-GAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v4: 12-91107301-GAAAGAAAGAAAGAAAGAAAGAA-G
MyVariant Identifiers: chr12:g.91501079_91501100del (hg19) chr12:g.91107302_91107323del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107303_91107324del , CM000674.2:g.91107303_91107324del GRCh38
NC_000012.11:g.91501080_91501101del , CM000674.1:g.91501080_91501101del GRCh37
NC_000012.10:g.90025211_90025232del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+795_862+816del MANE Select ENSP00000266718.4:n.862+795_862+816del
ENST00000266718.4:c.862+795_862+816del ENSP00000266718.4:n.862+795_862+816del
ENST00000546642.1:n.612+795_612+816del
ENST00000548071.1:n.255+795_255+816del
NM_002345.3:c.862+795_862+816del NP_002336.1:n.862+795_862+816del
NM_002345.4:c.862+795_862+816del MANE Select NP_002336.1:n.862+795_862+816del
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