Canonical Allele Identifier: CA2466504746
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863682_153863700delinsTCACCCCCTGCGGTCCAGC , CM000685.2:g.153863682_153863700delinsTCACCCCCTGCGGTCCAGC GRCh38
NC_000023.10:g.153129137_153129155delinsTCACCCCCTGCGGTCCAGC , CM000685.1:g.153129137_153129155delinsTCACCCCCTGCGGTCCAGC GRCh37
NC_000023.9:g.152782331_152782349delinsTCACCCCCTGCGGTCCAGC NCBI36
NG_009645.3:g.50524_50542delinsGCTGGACCGCAGGGGGTGA
NG_009645.4:g.27474_27492delinsGCTGGACCGCAGGGGGTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA MANE Select ENSP00000359077.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTG...
ENST00000361699.8:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA ENSP00000355380.4:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTG...
ENST00000361981.7:c.3443-151_3443-133delinsGCTGGACCGCAGGGGGTGA ENSP00000354712.3:n.3443-151_3443-133delinsGCTGGACCGCAGGGGGTG...
ENST00000370055.5:c.3443-151_3443-133delinsGCTGGACCGCAGGGGGTGA ENSP00000359072.1:n.3443-151_3443-133delinsGCTGGACCGCAGGGGGTG...
ENST00000370058.7:c.158-151_158-133delinsGCTGGACCGCAGGGGGTGA ENSP00000359075.3:n.158-151_158-133delinsGCTGGACCGCAGGGGGTGA
ENST00000370060.5:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA ENSP00000359077.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTG...
ENST00000491983.1:n.270_288delinsGCTGGACCGCAGGGGGTGA
NM_000425.4:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA NP_000416.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA
NM_001143963.2:c.3443-151_3443-133delinsGCTGGACCGCAGGGGGTGA NP_001137435.1:n.3443-151_3443-133delinsGCTGGACCGCAGGGGGTGA
NM_001278116.1:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA NP_001265045.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA
NM_024003.3:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA NP_076493.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA
NM_000425.5:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA NP_000416.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA
NM_001278116.2:c.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA MANE Select NP_001265045.1:n.3458-151_3458-133delinsGCTGGACCGCAGGGGGTGA