Canonical Allele Identifier: CA2824264299

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870550_153870551insCCAAACACACCCAACAC , CM000685.2:g.153870550_153870551insCCAAACACACCCAACAC	GRCh38
NC_000023.10:g.153136005_153136006insCCAAACACACCCAACAC , CM000685.1:g.153136005_153136006insCCAAACACACCCAACAC	GRCh37
NC_000023.9:g.152789199_152789200insCCAAACACACCCAACAC	NCBI36
NG_009645.3:g.43673_43674insGTGTTGGGTGTGTTTGG
NG_009645.4:g.20623_20624insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.695-52_695-51insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000359077.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
ENST00000361699.8:c.695-52_695-51insGTGTTGGGTGTGTTTGG	ENSP00000355380.4:n.695-52_695-51insGTGTTGGGTGTGTTTGG
ENST00000361981.7:c.680-52_680-51insGTGTTGGGTGTGTTTGG	ENSP00000354712.3:n.680-52_680-51insGTGTTGGGTGTGTTTGG
ENST00000370055.5:c.680-52_680-51insGTGTTGGGTGTGTTTGG	ENSP00000359072.1:n.680-52_680-51insGTGTTGGGTGTGTTTGG
ENST00000370060.5:c.695-52_695-51insGTGTTGGGTGTGTTTGG	ENSP00000359077.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
NM_000425.4:c.695-52_695-51insGTGTTGGGTGTGTTTGG	NP_000416.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
NM_001143963.2:c.680-52_680-51insGTGTTGGGTGTGTTTGG	NP_001137435.1:n.680-52_680-51insGTGTTGGGTGTGTTTGG
NM_001278116.1:c.695-52_695-51insGTGTTGGGTGTGTTTGG	NP_001265045.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
NM_024003.3:c.695-52_695-51insGTGTTGGGTGTGTTTGG	NP_076493.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
NM_000425.5:c.695-52_695-51insGTGTTGGGTGTGTTTGG	NP_000416.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG
NM_001278116.2:c.695-52_695-51insGTGTTGGGTGTGTTTGG MANE Select	NP_001265045.1:n.695-52_695-51insGTGTTGGGTGTGTTTGG