Canonical Allele Identifier: CA519208696

Gene: L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153135849dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870394dup , CM000685.2:g.153870394dup	GRCh38
NC_000023.10:g.153135849dup , CM000685.1:g.153135849dup	GRCh37
NC_000023.9:g.152789043dup	NCBI36
NG_009645.3:g.43830dup
NG_009645.4:g.20780dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.800dup MANE Select	ENSP00000359077.1:p.Phe269LeufsTer?
ENST00000361699.8:c.800dup	ENSP00000355380.4:p.Phe269LeufsTer?
ENST00000361981.7:c.785dup	ENSP00000354712.3:p.Phe264LeufsTer?
ENST00000370055.5:c.785dup	ENSP00000359072.1:p.Phe264LeufsTer?
ENST00000370060.5:c.800dup	ENSP00000359077.1:p.Phe269LeufsTer?
NM_000425.4:c.800dup	NP_000416.1:p.Phe269LeufsTer?
NM_001143963.2:c.785dup	NP_001137435.1:p.Phe264LeufsTer?
NM_001278116.1:c.800dup	NP_001265045.1:p.Phe269LeufsTer?
NM_024003.3:c.800dup	NP_076493.1:p.Phe269LeufsTer?
NM_000425.5:c.800dup	NP_000416.1:p.Phe269LeufsTer?
NM_001278116.2:c.800dup MANE Select	NP_001265045.1:p.Phe269LeufsTer?