Canonical Allele Identifier: CA241230295

Gene: LUM

Linked Data

• dbSNP Id: rs780228247
• MyVariant Identifiers: chr12:g.91501039_91501040del (hg19) ; chr12:g.91107262_91107263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107263_91107264del , CM000674.2:g.91107263_91107264del	GRCh38
NC_000012.11:g.91501040_91501041del , CM000674.1:g.91501040_91501041del	GRCh37
NC_000012.10:g.90025171_90025172del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+855_862+856del MANE Select	ENSP00000266718.4:n.862+855_862+856del
ENST00000266718.4:c.862+855_862+856del	ENSP00000266718.4:n.862+855_862+856del
ENST00000546642.1:n.612+855_612+856del
ENST00000548071.1:n.255+855_255+856del
NM_002345.3:c.862+855_862+856del	NP_002336.1:n.862+855_862+856del
NM_002345.4:c.862+855_862+856del MANE Select	NP_002336.1:n.862+855_862+856del