Canonical Allele Identifier: CA2824264412
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153871011_153871015del , CM000685.2:g.153871011_153871015del GRCh38
NC_000023.10:g.153136466_153136470del , CM000685.1:g.153136466_153136470del GRCh37
NC_000023.9:g.152789660_152789664del NCBI36
NG_009645.3:g.43209_43213del
NG_009645.4:g.20159_20163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.523+42_523+46del MANE Select ENSP00000359077.1:n.523+42_523+46del
ENST00000361699.8:c.523+42_523+46del ENSP00000355380.4:n.523+42_523+46del
ENST00000361981.7:c.508+42_508+46del ENSP00000354712.3:n.508+42_508+46del
ENST00000370055.5:c.508+42_508+46del ENSP00000359072.1:n.508+42_508+46del
ENST00000370060.5:c.523+42_523+46del ENSP00000359077.1:n.523+42_523+46del
NM_000425.4:c.523+42_523+46del NP_000416.1:n.523+42_523+46del
NM_001143963.2:c.508+42_508+46del NP_001137435.1:n.508+42_508+46del
NM_001278116.1:c.523+42_523+46del NP_001265045.1:n.523+42_523+46del
NM_024003.3:c.523+42_523+46del NP_076493.1:n.523+42_523+46del
NM_000425.5:c.523+42_523+46del NP_000416.1:n.523+42_523+46del
NM_001278116.2:c.523+42_523+46del MANE Select NP_001265045.1:n.523+42_523+46del