Canonical Allele Identifier: CA693364094

Gene: LUM

Linked Data

• dbSNP Id: rs869096187
• gnomAD v3: 12-91107287-GAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• gnomAD v4: 12-91107287-GAGAAAGAAAGAAAGAAAGAAAGAAAGAA-G
• MyVariant Identifiers: chr12:g.91501065_91501092del (hg19) ; chr12:g.91107288_91107315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107318_91107345del , CM000674.2:g.91107318_91107345del	GRCh38
NC_000012.11:g.91501095_91501122del , CM000674.1:g.91501095_91501122del	GRCh37
NC_000012.10:g.90025226_90025253del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+803_862+830del MANE Select	ENSP00000266718.4:n.862+803_862+830del
ENST00000266718.4:c.862+803_862+830del	ENSP00000266718.4:n.862+803_862+830del
ENST00000546642.1:n.612+803_612+830del
ENST00000548071.1:n.255+803_255+830del
NM_002345.3:c.862+803_862+830del	NP_002336.1:n.862+803_862+830del
NM_002345.4:c.862+803_862+830del MANE Select	NP_002336.1:n.862+803_862+830del