Canonical Allele Identifier: CA2824280632

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866846dup , CM000685.2:g.153866846dup	GRCh38
NC_000023.10:g.153132301dup , CM000685.1:g.153132301dup	GRCh37
NC_000023.9:g.152785495dup	NCBI36
NG_009645.3:g.47383dup
NG_009645.4:g.24333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2239dup MANE Select	ENSP00000359077.1:p.Gln747ProfsTer?
ENST00000361699.8:c.2239dup	ENSP00000355380.4:p.Gln747ProfsTer?
ENST00000361981.7:c.2224dup	ENSP00000354712.3:p.Gln742ProfsTer?
ENST00000370055.5:c.2224dup	ENSP00000359072.1:p.Gln742ProfsTer?
ENST00000370060.5:c.2239dup	ENSP00000359077.1:p.Gln747ProfsTer?
ENST00000455590.1:c.501dup
NM_000425.4:c.2239dup	NP_000416.1:p.Gln747ProfsTer?
NM_001143963.2:c.2224dup	NP_001137435.1:p.Gln742ProfsTer?
NM_001278116.1:c.2239dup	NP_001265045.1:p.Gln747ProfsTer?
NM_024003.3:c.2239dup	NP_076493.1:p.Gln747ProfsTer?
NM_000425.5:c.2239dup	NP_000416.1:p.Gln747ProfsTer?
NM_001278116.2:c.2239dup MANE Select	NP_001265045.1:p.Gln747ProfsTer?