Canonical Allele Identifier: CA241230224
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs570693721
gnomAD v2: 12-91500997-AAAG-A
gnomAD v3: 12-91107220-AAAG-A
gnomAD v4: 12-91107220-AAAG-A
MyVariant Identifiers: chr12:g.91500998_91501000del (hg19) chr12:g.91107221_91107223del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107226_91107228del , CM000674.2:g.91107226_91107228del GRCh38
NC_000012.11:g.91501003_91501005del , CM000674.1:g.91501003_91501005del GRCh37
NC_000012.10:g.90025134_90025136del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+895_862+897del MANE Select ENSP00000266718.4:n.862+895_862+897del
ENST00000266718.4:c.862+895_862+897del ENSP00000266718.4:n.862+895_862+897del
ENST00000546642.1:n.612+895_612+897del
ENST00000548071.1:n.255+895_255+897del
NM_002345.3:c.862+895_862+897del NP_002336.1:n.862+895_862+897del
NM_002345.4:c.862+895_862+897del MANE Select NP_002336.1:n.862+895_862+897del
Search 100 bp 5'
Search 100 bp 3'