Canonical Allele Identifier: CA606703712
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1234901707
gnomAD v2: 12-91501056-GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v3: 12-91107279-GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
gnomAD v4: 12-91107279-GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
MyVariant Identifiers: chr12:g.91501057_91501092del (hg19) chr12:g.91107280_91107315del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107281_91107316del , CM000674.2:g.91107281_91107316del GRCh38
NC_000012.11:g.91501058_91501093del , CM000674.1:g.91501058_91501093del GRCh37
NC_000012.10:g.90025189_90025224del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+803_862+838del MANE Select ENSP00000266718.4:n.862+803_862+838del
ENST00000266718.4:c.862+803_862+838del ENSP00000266718.4:n.862+803_862+838del
ENST00000546642.1:n.612+803_612+838del
ENST00000548071.1:n.255+803_255+838del
NM_002345.3:c.862+803_862+838del NP_002336.1:n.862+803_862+838del
NM_002345.4:c.862+803_862+838del MANE Select NP_002336.1:n.862+803_862+838del
Search 100 bp 5'
Search 100 bp 3'