Canonical Allele Identifier: CA606703601
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1489011765
gnomAD v2: 12-91500990-A-AAGAAAGAG
gnomAD v3: 12-91107213-A-AAGAAAGAG
gnomAD v4: 12-91107213-A-AAGAAAGAG
MyVariant Identifiers: chr12:g.91500994delinsAAGAGAGAG (hg19) chr12:g.91500990_91500991insAGAAAGAG (hg19) chr12:g.91107217delinsAAGAGAGAG (hg38) chr12:g.91107213_91107214insAGAAAGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107216_91107217insAAGAGAGA , CM000674.2:g.91107216_91107217insAAGAGAGA GRCh38
NC_000012.11:g.91500993_91500994insAAGAGAGA , CM000674.1:g.91500993_91500994insAAGAGAGA GRCh37
NC_000012.10:g.90025124_90025125insAAGAGAGA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+904_862+905insCTCTTTCT MANE Select ENSP00000266718.4:n.862+904_862+905insCTCTTTCT
ENST00000266718.4:c.862+904_862+905insCTCTTTCT ENSP00000266718.4:n.862+904_862+905insCTCTTTCT
ENST00000546642.1:n.612+904_612+905insCTCTTTCT
ENST00000548071.1:n.255+904_255+905insCTCTTTCT
NM_002345.3:c.862+904_862+905insCTCTTTCT NP_002336.1:n.862+904_862+905insCTCTTTCT
NM_002345.4:c.862+904_862+905insCTCTTTCT MANE Select NP_002336.1:n.862+904_862+905insCTCTTTCT
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