Canonical Allele Identifier: CA693363308

Gene: LUM

Linked Data

• dbSNP Id: rs1299421474
• MyVariant Identifiers: chr12:g.91500770_91500771insTT (hg19) ; chr12:g.91106993_91106994insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91106993_91106994insTT , CM000674.2:g.91106993_91106994insTT	GRCh38
NC_000012.11:g.91500770_91500771insTT , CM000674.1:g.91500770_91500771insTT	GRCh37
NC_000012.10:g.90024901_90024902insTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+1124_862+1125insAA MANE Select	ENSP00000266718.4:n.862+1124_862+1125insAA
ENST00000266718.4:c.862+1124_862+1125insAA	ENSP00000266718.4:n.862+1124_862+1125insAA
ENST00000546642.1:n.612+1124_612+1125insAA
ENST00000548071.1:n.255+1124_255+1125insAA
NM_002345.3:c.862+1124_862+1125insAA	NP_002336.1:n.862+1124_862+1125insAA
NM_002345.4:c.862+1124_862+1125insAA MANE Select	NP_002336.1:n.862+1124_862+1125insAA