Canonical Allele Identifier: CA241230166

Gene: LUM

Linked Data

• dbSNP Id: rs140231552
• MyVariant Identifiers: chr12:g.91500976_91500977insAAACAAAA (hg19) ; chr12:g.91107199_91107200insAAACAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107202_91107203insCAAAAAAA , CM000674.2:g.91107202_91107203insCAAAAAAA	GRCh38
NC_000012.11:g.91500979_91500980insCAAAAAAA , CM000674.1:g.91500979_91500980insCAAAAAAA	GRCh37
NC_000012.10:g.90025110_90025111insCAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+920_862+921insTTGTTTTT MANE Select	ENSP00000266718.4:n.862+920_862+921insTTGTTTTT
ENST00000266718.4:c.862+920_862+921insTTGTTTTT	ENSP00000266718.4:n.862+920_862+921insTTGTTTTT
ENST00000546642.1:n.612+920_612+921insTTGTTTTT
ENST00000548071.1:n.255+920_255+921insTTGTTTTT
NM_002345.3:c.862+920_862+921insTTGTTTTT	NP_002336.1:n.862+920_862+921insTTGTTTTT
NM_002345.4:c.862+920_862+921insTTGTTTTT MANE Select	NP_002336.1:n.862+920_862+921insTTGTTTTT