Canonical Allele Identifier: CA2740090189

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 3050537
• ClinVar RCV Id: RCV003954585

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870441del , CM000685.2:g.153870441del	GRCh38
NC_000023.10:g.153135896del , CM000685.1:g.153135896del	GRCh37
NC_000023.9:g.152789090del	NCBI36
NG_009645.3:g.43784del
NG_009645.4:g.20734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.754del MANE Select	ENSP00000359077.1:p.Leu252TrpfsTer?
ENST00000361699.8:c.754del	ENSP00000355380.4:p.Leu252TrpfsTer?
ENST00000361981.7:c.739del	ENSP00000354712.3:p.Leu247TrpfsTer?
ENST00000370055.5:c.739del	ENSP00000359072.1:p.Leu247TrpfsTer?
ENST00000370060.5:c.754del	ENSP00000359077.1:p.Leu252TrpfsTer?
NM_000425.4:c.754del	NP_000416.1:p.Leu252TrpfsTer?
NM_001143963.2:c.739del	NP_001137435.1:p.Leu247TrpfsTer?
NM_001278116.1:c.754del	NP_001265045.1:p.Leu252TrpfsTer?
NM_024003.3:c.754del	NP_076493.1:p.Leu252TrpfsTer?
NM_000425.5:c.754del	NP_000416.1:p.Leu252TrpfsTer?
NM_001278116.2:c.754del MANE Select	NP_001265045.1:p.Leu252TrpfsTer?