Canonical Allele Identifier: CA10575511
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 9992
ClinVar RCV Id: RCV000010673
dbSNP Id: rs879253714
MyVariant Identifiers: chrX:g.153128972_153128973del (hg19) chrX:g.153863517_153863518del (hg38)
PubMed: PMID:3460961 PMID:7920659
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863517_153863518del , CM000685.2:g.153863517_153863518del GRCh38
NC_000023.10:g.153128972_153128973del , CM000685.1:g.153128972_153128973del GRCh37
NC_000023.9:g.152782166_152782167del NCBI36
NG_009645.3:g.50706_50707del
NG_009645.4:g.27656_27657del

Transcript Alleles

HGVS Amino-acid change
ENST00000370060.7:c.3489_3490del MANE Select ENSP00000359077.1:p.Glu1164GlyfsTer7
ENST00000361699.8:c.3489_3490del ENSP00000355380.4:p.Glu1164GlyfsTer7
ENST00000361981.7:c.3474_3475del ENSP00000354712.3:p.Glu1159GlyfsTer7
ENST00000370055.5:c.3474_3475del ENSP00000359072.1:p.Glu1159GlyfsTer7
ENST00000370058.7:c.189_190del ENSP00000359075.3:p.Glu64GlyfsTer7
ENST00000370060.5:c.3489_3490del ENSP00000359077.1:p.Glu1164GlyfsTer7
ENST00000491983.1:n.452_453del
NM_000425.4:c.3489_3490del NP_000416.1:p.Glu1164GlyfsTer7
NM_001143963.2:c.3474_3475del NP_001137435.1:p.Glu1159GlyfsTer7
NM_001278116.1:c.3489_3490del NP_001265045.1:p.Glu1164GlyfsTer7
NM_024003.3:c.3489_3490del NP_076493.1:p.Glu1164GlyfsTer7
NM_000425.5:c.3489_3490del NP_000416.1:p.Glu1164GlyfsTer7
NM_001278116.2:c.3489_3490del MANE Select NP_001265045.1:p.Glu1164GlyfsTer7
Search 100 bp 5'
Search 100 bp 3'