Canonical Allele Identifier: CA2499226460

Gene: L1CAM

Linked Data

• ClinVar Variation Id: 1217291
• ClinVar RCV Id: RCV001582400
• dbSNP Id: rs2148498265

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870419_153870476delinsCTGTCAATGT , CM000685.2:g.153870419_153870476delinsCTGTCAATGT	GRCh38
NC_000023.10:g.153135874_153135931delinsCTGTCAATGT , CM000685.1:g.153135874_153135931delinsCTGTCAATGT	GRCh37
NC_000023.9:g.152789068_152789125delinsCTGTCAATGT	NCBI36
NG_009645.3:g.43748_43805delinsACATTGACAG
NG_009645.4:g.20698_20755delinsACATTGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.718_775delinsACATTGACAG MANE Select	ENSP00000359077.1:p.Pro240_Pro259delinsThrLeuThrAla
ENST00000361699.8:c.718_775delinsACATTGACAG	ENSP00000355380.4:p.Pro240_Pro259delinsThrLeuThrAla
ENST00000361981.7:c.703_760delinsACATTGACAG	ENSP00000354712.3:p.Pro235_Pro254delinsThrLeuThrAla
ENST00000370055.5:c.703_760delinsACATTGACAG	ENSP00000359072.1:p.Pro235_Pro254delinsThrLeuThrAla
ENST00000370060.5:c.718_775delinsACATTGACAG	ENSP00000359077.1:p.Pro240_Pro259delinsThrLeuThrAla
NM_000425.4:c.718_775delinsACATTGACAG	NP_000416.1:p.Pro240_Pro259delinsThrLeuThrAla
NM_001143963.2:c.703_760delinsACATTGACAG	NP_001137435.1:p.Pro235_Pro254delinsThrLeuThrAla
NM_001278116.1:c.718_775delinsACATTGACAG	NP_001265045.1:p.Pro240_Pro259delinsThrLeuThrAla
NM_024003.3:c.718_775delinsACATTGACAG	NP_076493.1:p.Pro240_Pro259delinsThrLeuThrAla
NM_000425.5:c.718_775delinsACATTGACAG	NP_000416.1:p.Pro240_Pro259delinsThrLeuThrAla
NM_001278116.2:c.718_775delinsACATTGACAG MANE Select	NP_001265045.1:p.Pro240_Pro259delinsThrLeuThrAla