Canonical Allele Identifier: CA606703803

Gene: LUM

Linked Data

• dbSNP Id: rs1268037329
• gnomAD v2: 12-91501090-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA-G
• gnomAD v3: 12-91107313-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA-G
• gnomAD v4: 12-91107313-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA-G
• MyVariant Identifiers: chr12:g.91501091_91501127del (hg19) ; chr12:g.91107314_91107350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107314_91107350del , CM000674.2:g.91107314_91107350del	GRCh38
NC_000012.11:g.91501091_91501127del , CM000674.1:g.91501091_91501127del	GRCh37
NC_000012.10:g.90025222_90025258del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+768_862+804del MANE Select	ENSP00000266718.4:n.862+768_862+804del
ENST00000266718.4:c.862+768_862+804del	ENSP00000266718.4:n.862+768_862+804del
ENST00000546642.1:n.612+768_612+804del
ENST00000548071.1:n.255+768_255+804del
NM_002345.3:c.862+768_862+804del	NP_002336.1:n.862+768_862+804del
NM_002345.4:c.862+768_862+804del MANE Select	NP_002336.1:n.862+768_862+804del