Canonical Allele Identifier: CA693363629

Gene: LUM

Linked Data

• dbSNP Id: rs1488565247
• MyVariant Identifiers: chr12:g.91501012_91501031del (hg19) ; chr12:g.91107235_91107254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107235_91107254del , CM000674.2:g.91107235_91107254del	GRCh38
NC_000012.11:g.91501012_91501031del , CM000674.1:g.91501012_91501031del	GRCh37
NC_000012.10:g.90025143_90025162del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+864_862+883del MANE Select	ENSP00000266718.4:n.862+864_862+883del
ENST00000266718.4:c.862+864_862+883del	ENSP00000266718.4:n.862+864_862+883del
ENST00000546642.1:n.612+864_612+883del
ENST00000548071.1:n.255+864_255+883del
NM_002345.3:c.862+864_862+883del	NP_002336.1:n.862+864_862+883del
NM_002345.4:c.862+864_862+883del MANE Select	NP_002336.1:n.862+864_862+883del