Canonical Allele Identifier: CA2697544840

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2773304
• ClinVar RCV Id: RCV003591128

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870518_153870520dup , CM000685.2:g.153870518_153870520dup	GRCh38
NC_000023.10:g.153135973_153135975dup , CM000685.1:g.153135973_153135975dup	GRCh37
NC_000023.9:g.152789167_152789169dup	NCBI36
NG_009645.3:g.43706_43708dup
NG_009645.4:g.20656_20658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.695-19_695-17dup MANE Select	ENSP00000359077.1:n.695-19_695-17dup
ENST00000361699.8:c.695-19_695-17dup	ENSP00000355380.4:n.695-19_695-17dup
ENST00000361981.7:c.680-19_680-17dup	ENSP00000354712.3:n.680-19_680-17dup
ENST00000370055.5:c.680-19_680-17dup	ENSP00000359072.1:n.680-19_680-17dup
ENST00000370060.5:c.695-19_695-17dup	ENSP00000359077.1:n.695-19_695-17dup
NM_000425.4:c.695-19_695-17dup	NP_000416.1:n.695-19_695-17dup
NM_001143963.2:c.680-19_680-17dup	NP_001137435.1:n.680-19_680-17dup
NM_001278116.1:c.695-19_695-17dup	NP_001265045.1:n.695-19_695-17dup
NM_024003.3:c.695-19_695-17dup	NP_076493.1:n.695-19_695-17dup
NM_000425.5:c.695-19_695-17dup	NP_000416.1:n.695-19_695-17dup
NM_001278116.2:c.695-19_695-17dup MANE Select	NP_001265045.1:n.695-19_695-17dup