Canonical Allele Identifier: CA241230227

Gene: LUM

Linked Data

• dbSNP Id: rs368635211
• MyVariant Identifiers: chr12:g.91501001_91501002insGAGAAAAG (hg19) ; chr12:g.91107224_91107225insGAGAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107224_91107225insGAGAAAAG , CM000674.2:g.91107224_91107225insGAGAAAAG	GRCh38
NC_000012.11:g.91501001_91501002insGAGAAAAG , CM000674.1:g.91501001_91501002insGAGAAAAG	GRCh37
NC_000012.10:g.90025132_90025133insGAGAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+893_862+894insCTTTTCTC MANE Select	ENSP00000266718.4:n.862+893_862+894insCTTTTCTC
ENST00000266718.4:c.862+893_862+894insCTTTTCTC	ENSP00000266718.4:n.862+893_862+894insCTTTTCTC
ENST00000546642.1:n.612+893_612+894insCTTTTCTC
ENST00000548071.1:n.255+893_255+894insCTTTTCTC
NM_002345.3:c.862+893_862+894insCTTTTCTC	NP_002336.1:n.862+893_862+894insCTTTTCTC
NM_002345.4:c.862+893_862+894insCTTTTCTC MANE Select	NP_002336.1:n.862+893_862+894insCTTTTCTC