Canonical Allele Identifier: CA2579732543
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863637_153863638del , CM000685.2:g.153863637_153863638del GRCh38
NC_000023.10:g.153129092_153129093del , CM000685.1:g.153129092_153129093del GRCh37
NC_000023.9:g.152782286_152782287del NCBI36
NG_009645.3:g.50588_50589del
NG_009645.4:g.27538_27539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3458-87_3458-86del MANE Select ENSP00000359077.1:n.3458-87_3458-86del
ENST00000361699.8:c.3458-87_3458-86del ENSP00000355380.4:n.3458-87_3458-86del
ENST00000361981.7:c.3443-87_3443-86del ENSP00000354712.3:n.3443-87_3443-86del
ENST00000370055.5:c.3443-87_3443-86del ENSP00000359072.1:n.3443-87_3443-86del
ENST00000370058.7:c.158-87_158-86del ENSP00000359075.3:n.158-87_158-86del
ENST00000370060.5:c.3458-87_3458-86del ENSP00000359077.1:n.3458-87_3458-86del
ENST00000491983.1:n.334_335del
NM_000425.4:c.3458-87_3458-86del NP_000416.1:n.3458-87_3458-86del
NM_001143963.2:c.3443-87_3443-86del NP_001137435.1:n.3443-87_3443-86del
NM_001278116.1:c.3458-87_3458-86del NP_001265045.1:n.3458-87_3458-86del
NM_024003.3:c.3458-87_3458-86del NP_076493.1:n.3458-87_3458-86del
NM_000425.5:c.3458-87_3458-86del NP_000416.1:n.3458-87_3458-86del
NM_001278116.2:c.3458-87_3458-86del MANE Select NP_001265045.1:n.3458-87_3458-86del