Canonical Allele Identifier: CA2579733003

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870419del , CM000685.2:g.153870419del	GRCh38
NC_000023.10:g.153135874del , CM000685.1:g.153135874del	GRCh37
NC_000023.9:g.152789068del	NCBI36
NG_009645.3:g.43806del
NG_009645.4:g.20756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.776del MANE Select	ENSP00000359077.1:p.Pro259HisfsTer?
ENST00000361699.8:c.776del	ENSP00000355380.4:p.Pro259HisfsTer?
ENST00000361981.7:c.761del	ENSP00000354712.3:p.Pro254HisfsTer?
ENST00000370055.5:c.761del	ENSP00000359072.1:p.Pro254HisfsTer?
ENST00000370060.5:c.776del	ENSP00000359077.1:p.Pro259HisfsTer?
NM_000425.4:c.776del	NP_000416.1:p.Pro259HisfsTer?
NM_001143963.2:c.761del	NP_001137435.1:p.Pro254HisfsTer?
NM_001278116.1:c.776del	NP_001265045.1:p.Pro259HisfsTer?
NM_024003.3:c.776del	NP_076493.1:p.Pro259HisfsTer?
NM_000425.5:c.776del	NP_000416.1:p.Pro259HisfsTer?
NM_001278116.2:c.776del MANE Select	NP_001265045.1:p.Pro259HisfsTer?