Canonical Allele Identifier: CA2054318225

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107234_91107246delinsGAAAGGAAAGAAA , CM000674.2:g.91107234_91107246delinsGAAAGGAAAGAAA	GRCh38
NC_000012.11:g.91501011_91501023delinsGAAAGGAAAGAAA , CM000674.1:g.91501011_91501023delinsGAAAGGAAAGAAA	GRCh37
NC_000012.10:g.90025142_90025154delinsGAAAGGAAAGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+872_862+884delinsTTTCTTTCCTTTC MANE Select	ENSP00000266718.4:n.862+872_862+884delinsTTTCTTTCCTTTC
ENST00000266718.4:c.862+872_862+884delinsTTTCTTTCCTTTC	ENSP00000266718.4:n.862+872_862+884delinsTTTCTTTCCTTTC
ENST00000546642.1:n.612+872_612+884delinsTTTCTTTCCTTTC
ENST00000548071.1:n.255+872_255+884delinsTTTCTTTCCTTTC
NM_002345.3:c.862+872_862+884delinsTTTCTTTCCTTTC	NP_002336.1:n.862+872_862+884delinsTTTCTTTCCTTTC
NM_002345.4:c.862+872_862+884delinsTTTCTTTCCTTTC MANE Select	NP_002336.1:n.862+872_862+884delinsTTTCTTTCCTTTC