Canonical Allele Identifier: CA2695236876

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870482_153870485dup , CM000685.2:g.153870482_153870485dup	GRCh38
NC_000023.10:g.153135937_153135940dup , CM000685.1:g.153135937_153135940dup	GRCh37
NC_000023.9:g.152789131_152789134dup	NCBI36
NG_009645.3:g.43740_43743dup
NG_009645.4:g.20690_20693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.710_713dup MANE Select	ENSP00000359077.1:p.Lys239GlnfsTer?
ENST00000361699.8:c.710_713dup	ENSP00000355380.4:p.Lys239GlnfsTer?
ENST00000361981.7:c.695_698dup	ENSP00000354712.3:p.Lys234GlnfsTer?
ENST00000370055.5:c.695_698dup	ENSP00000359072.1:p.Lys234GlnfsTer?
ENST00000370060.5:c.710_713dup	ENSP00000359077.1:p.Lys239GlnfsTer?
NM_000425.4:c.710_713dup	NP_000416.1:p.Lys239GlnfsTer?
NM_001143963.2:c.695_698dup	NP_001137435.1:p.Lys234GlnfsTer?
NM_001278116.1:c.710_713dup	NP_001265045.1:p.Lys239GlnfsTer?
NM_024003.3:c.710_713dup	NP_076493.1:p.Lys239GlnfsTer?
NM_000425.5:c.710_713dup	NP_000416.1:p.Lys239GlnfsTer?
NM_001278116.2:c.710_713dup MANE Select	NP_001265045.1:p.Lys239GlnfsTer?