Canonical Allele Identifier: CA241230186
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs71097876
gnomAD v2: 12-91500976-A-AAAAGAAAG
gnomAD v3: 12-91107199-A-AAAAGAAAG
gnomAD v4: 12-91107199-A-AAAAGAAAG
MyVariant Identifiers: chr12:g.91500993_91500994insAAGAAAGA (hg19) chr12:g.91500992_91500993insAAAGAAAG (hg19) chr12:g.91500984_91500985insAAAGAAAG (hg19) chr12:g.91500983_91500984insGAAAGAAA (hg19) chr12:g.91500981_91500982insAAGAAAGA (hg19) chr12:g.91500980_91500981insAAAGAAAG (hg19) chr12:g.91500978_91500979insAGAAAGAA (hg19) chr12:g.91500976_91500977insAAAGAAAG (hg19) chr12:g.91107215_91107216insAAAGAAAG (hg38) chr12:g.91107199_91107200insAAAGAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107209_91107216dup , CM000674.2:g.91107209_91107216dup GRCh38
NC_000012.11:g.91500986_91500993dup , CM000674.1:g.91500986_91500993dup GRCh37
NC_000012.10:g.90025117_90025124dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+911_862+918dup MANE Select ENSP00000266718.4:n.862+911_862+918dup
ENST00000266718.4:c.862+911_862+918dup ENSP00000266718.4:n.862+911_862+918dup
ENST00000546642.1:n.612+911_612+918dup
ENST00000548071.1:n.255+911_255+918dup
NM_002345.3:c.862+911_862+918dup NP_002336.1:n.862+911_862+918dup
NM_002345.4:c.862+911_862+918dup MANE Select NP_002336.1:n.862+911_862+918dup
Search 100 bp 5'
Search 100 bp 3'