Canonical Allele Identifier: CA2579929271

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 2500928
• ClinVar RCV Id: RCV003226113

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863508dup , CM000685.2:g.153863508dup	GRCh38
NC_000023.10:g.153128963dup , CM000685.1:g.153128963dup	GRCh37
NC_000023.9:g.152782157dup	NCBI36
NG_009645.3:g.50717dup
NG_009645.4:g.27667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3500dup MANE Select	ENSP00000359077.1:p.Met1168AspfsTer4
ENST00000361699.8:c.3500dup	ENSP00000355380.4:p.Met1168AspfsTer4
ENST00000361981.7:c.3485dup	ENSP00000354712.3:p.Met1163AspfsTer4
ENST00000370055.5:c.3485dup	ENSP00000359072.1:p.Met1163AspfsTer4
ENST00000370058.7:c.200dup	ENSP00000359075.3:p.Met68AspfsTer4
ENST00000370060.5:c.3500dup	ENSP00000359077.1:p.Met1168AspfsTer4
ENST00000491983.1:n.463dup
NM_000425.4:c.3500dup	NP_000416.1:p.Met1168AspfsTer4
NM_001143963.2:c.3485dup	NP_001137435.1:p.Met1163AspfsTer4
NM_001278116.1:c.3500dup	NP_001265045.1:p.Met1168AspfsTer4
NM_024003.3:c.3500dup	NP_076493.1:p.Met1168AspfsTer4
NM_000425.5:c.3500dup	NP_000416.1:p.Met1168AspfsTer4
NM_001278116.2:c.3500dup MANE Select	NP_001265045.1:p.Met1168AspfsTer4