Canonical Allele Identifier: CA693364240

Gene: LUM

Linked Data

• dbSNP Id: rs1452004940
• MyVariant Identifiers: chr12:g.91501087_91501126del (hg19) ; chr12:g.91107310_91107349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107311_91107350del , CM000674.2:g.91107311_91107350del	GRCh38
NC_000012.11:g.91501088_91501127del , CM000674.1:g.91501088_91501127del	GRCh37
NC_000012.10:g.90025219_90025258del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+769_862+808del MANE Select	ENSP00000266718.4:n.862+769_862+808del
ENST00000266718.4:c.862+769_862+808del	ENSP00000266718.4:n.862+769_862+808del
ENST00000546642.1:n.612+769_612+808del
ENST00000548071.1:n.255+769_255+808del
NM_002345.3:c.862+769_862+808del	NP_002336.1:n.862+769_862+808del
NM_002345.4:c.862+769_862+808del MANE Select	NP_002336.1:n.862+769_862+808del