Canonical Allele Identifier: CA2579732966

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869839_153869840del , CM000685.2:g.153869839_153869840del	GRCh38
NC_000023.10:g.153135294_153135295del , CM000685.1:g.153135294_153135295del	GRCh37
NC_000023.9:g.152788488_152788489del	NCBI36
NG_009645.3:g.44386_44387del
NG_009645.4:g.21336_21337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1088_1089del MANE Select	ENSP00000359077.1:p.Glu363GlyfsTer?
ENST00000361699.8:c.1088_1089del	ENSP00000355380.4:p.Glu363GlyfsTer?
ENST00000361981.7:c.1073_1074del	ENSP00000354712.3:p.Glu358GlyfsTer?
ENST00000370055.5:c.1073_1074del	ENSP00000359072.1:p.Glu358GlyfsTer?
ENST00000370060.5:c.1088_1089del	ENSP00000359077.1:p.Glu363GlyfsTer?
NM_000425.4:c.1088_1089del	NP_000416.1:p.Glu363GlyfsTer?
NM_001143963.2:c.1073_1074del	NP_001137435.1:p.Glu358GlyfsTer?
NM_001278116.1:c.1088_1089del	NP_001265045.1:p.Glu363GlyfsTer?
NM_024003.3:c.1088_1089del	NP_076493.1:p.Glu363GlyfsTer?
NM_000425.5:c.1088_1089del	NP_000416.1:p.Glu363GlyfsTer?
NM_001278116.2:c.1088_1089del MANE Select	NP_001265045.1:p.Glu363GlyfsTer?