Canonical Allele Identifier: CA2580101903

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2081567
• ClinVar RCV Id: RCV002979749

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153871002_153871104delinsTTC , CM000685.2:g.153871002_153871104delinsTTC	GRCh38
NC_000023.10:g.153136457_153136559delinsTTC , CM000685.1:g.153136457_153136559delinsTTC	GRCh37
NC_000023.9:g.152789651_152789753delinsTTC	NCBI36
NG_009645.3:g.43120_43222delinsGAA
NG_009645.4:g.20070_20172delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.476_524-42delinsGAA
ENST00000361699.8:c.476_524-42delinsGAA
ENST00000361981.7:c.461_509-42delinsGAA
ENST00000370055.5:c.461_509-42delinsGAA
ENST00000370060.5:c.476_524-42delinsGAA
NM_000425.4:c.476_524-42delinsGAA
NM_001143963.2:c.461_509-42delinsGAA
NM_001278116.1:c.476_524-42delinsGAA
NM_024003.3:c.476_524-42delinsGAA
NM_000425.5:c.476_524-42delinsGAA
NM_001278116.2:c.476_524-42delinsGAA