Canonical Allele Identifier: CA606703599

Gene: LUM

Linked Data

• dbSNP Id: rs71097876
• gnomAD v2: 12-91500976-AAAAGAAAGAAAGAAAG-A
• gnomAD v3: 12-91107199-AAAAGAAAGAAAGAAAG-A
• gnomAD v4: 12-91107199-AAAAGAAAGAAAGAAAG-A
• MyVariant Identifiers: chr12:g.91500977_91500992del (hg19) ; chr12:g.91107200_91107215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107201_91107216del , CM000674.2:g.91107201_91107216del	GRCh38
NC_000012.11:g.91500978_91500993del , CM000674.1:g.91500978_91500993del	GRCh37
NC_000012.10:g.90025109_90025124del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+903_862+918del MANE Select	ENSP00000266718.4:n.862+903_862+918del
ENST00000266718.4:c.862+903_862+918del	ENSP00000266718.4:n.862+903_862+918del
ENST00000546642.1:n.612+903_612+918del
ENST00000548071.1:n.255+903_255+918del
NM_002345.3:c.862+903_862+918del	NP_002336.1:n.862+903_862+918del
NM_002345.4:c.862+903_862+918del MANE Select	NP_002336.1:n.862+903_862+918del