Canonical Allele Identifier: CA2579733007

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870499del , CM000685.2:g.153870499del	GRCh38
NC_000023.10:g.153135954del , CM000685.1:g.153135954del	GRCh37
NC_000023.9:g.152789148del	NCBI36
NG_009645.3:g.43726del
NG_009645.4:g.20676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.696del MANE Select	ENSP00000359077.1:p.Asn233ThrfsTer3
ENST00000361699.8:c.696del	ENSP00000355380.4:p.Asn233ThrfsTer3
ENST00000361981.7:c.681del	ENSP00000354712.3:p.Asn228ThrfsTer3
ENST00000370055.5:c.681del	ENSP00000359072.1:p.Asn228ThrfsTer3
ENST00000370060.5:c.696del	ENSP00000359077.1:p.Asn233ThrfsTer3
NM_000425.4:c.696del	NP_000416.1:p.Asn233ThrfsTer3
NM_001143963.2:c.681del	NP_001137435.1:p.Asn228ThrfsTer3
NM_001278116.1:c.696del	NP_001265045.1:p.Asn233ThrfsTer3
NM_024003.3:c.696del	NP_076493.1:p.Asn233ThrfsTer3
NM_000425.5:c.696del	NP_000416.1:p.Asn233ThrfsTer3
NM_001278116.2:c.696del MANE Select	NP_001265045.1:p.Asn233ThrfsTer3