Canonical Allele Identifier: CA693364406

Gene: LUM

Linked Data

• dbSNP Id: rs1238688303
• MyVariant Identifiers: chr12:g.91501119_91501120del (hg19) ; chr12:g.91107342_91107343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107343_91107344del , CM000674.2:g.91107343_91107344del	GRCh38
NC_000012.11:g.91501120_91501121del , CM000674.1:g.91501120_91501121del	GRCh37
NC_000012.10:g.90025251_90025252del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+775_862+776del MANE Select	ENSP00000266718.4:n.862+775_862+776del
ENST00000266718.4:c.862+775_862+776del	ENSP00000266718.4:n.862+775_862+776del
ENST00000546642.1:n.612+775_612+776del
ENST00000548071.1:n.255+775_255+776del
NM_002345.3:c.862+775_862+776del	NP_002336.1:n.862+775_862+776del
NM_002345.4:c.862+775_862+776del MANE Select	NP_002336.1:n.862+775_862+776del