Canonical Allele Identifier: CA2579733005

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870429del , CM000685.2:g.153870429del	GRCh38
NC_000023.10:g.153135884del , CM000685.1:g.153135884del	GRCh37
NC_000023.9:g.152789078del	NCBI36
NG_009645.3:g.43795del
NG_009645.4:g.20745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.765del MANE Select	ENSP00000359077.1:p.Leu255PhefsTer?
ENST00000361699.8:c.765del	ENSP00000355380.4:p.Leu255PhefsTer?
ENST00000361981.7:c.750del	ENSP00000354712.3:p.Leu250PhefsTer?
ENST00000370055.5:c.750del	ENSP00000359072.1:p.Leu250PhefsTer?
ENST00000370060.5:c.765del	ENSP00000359077.1:p.Leu255PhefsTer?
NM_000425.4:c.765del	NP_000416.1:p.Leu255PhefsTer?
NM_001143963.2:c.750del	NP_001137435.1:p.Leu250PhefsTer?
NM_001278116.1:c.765del	NP_001265045.1:p.Leu255PhefsTer?
NM_024003.3:c.765del	NP_076493.1:p.Leu255PhefsTer?
NM_000425.5:c.765del	NP_000416.1:p.Leu255PhefsTer?
NM_001278116.2:c.765del MANE Select	NP_001265045.1:p.Leu255PhefsTer?