Canonical Allele Identifier: CA2695067047

Gene: L1CAM

Linked Data

• gnomAD v4: X-153863602-C-CCTGGAGCCCCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863602_153863603insCTGGAGCCCCGGG , CM000685.2:g.153863602_153863603insCTGGAGCCCCGGG	GRCh38
NC_000023.10:g.153129057_153129058insCTGGAGCCCCGGG , CM000685.1:g.153129057_153129058insCTGGAGCCCCGGG	GRCh37
NC_000023.9:g.152782251_152782252insCTGGAGCCCCGGG	NCBI36
NG_009645.3:g.50621_50622insCCCGGGGCTCCAG
NG_009645.4:g.27571_27572insCCCGGGGCTCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3458-54_3458-53insCCCGGGGCTCCAG MANE Select	ENSP00000359077.1:n.3458-54_3458-53insCCCGGGGCTCCAG
ENST00000361699.8:c.3458-54_3458-53insCCCGGGGCTCCAG	ENSP00000355380.4:n.3458-54_3458-53insCCCGGGGCTCCAG
ENST00000361981.7:c.3443-54_3443-53insCCCGGGGCTCCAG	ENSP00000354712.3:n.3443-54_3443-53insCCCGGGGCTCCAG
ENST00000370055.5:c.3443-54_3443-53insCCCGGGGCTCCAG	ENSP00000359072.1:n.3443-54_3443-53insCCCGGGGCTCCAG
ENST00000370058.7:c.158-54_158-53insCCCGGGGCTCCAG	ENSP00000359075.3:n.158-54_158-53insCCCGGGGCTCCAG
ENST00000370060.5:c.3458-54_3458-53insCCCGGGGCTCCAG	ENSP00000359077.1:n.3458-54_3458-53insCCCGGGGCTCCAG
ENST00000491983.1:n.367_368insCCCGGGGCTCCAG
NM_000425.4:c.3458-54_3458-53insCCCGGGGCTCCAG	NP_000416.1:n.3458-54_3458-53insCCCGGGGCTCCAG
NM_001143963.2:c.3443-54_3443-53insCCCGGGGCTCCAG	NP_001137435.1:n.3443-54_3443-53insCCCGGGGCTCCAG
NM_001278116.1:c.3458-54_3458-53insCCCGGGGCTCCAG	NP_001265045.1:n.3458-54_3458-53insCCCGGGGCTCCAG
NM_024003.3:c.3458-54_3458-53insCCCGGGGCTCCAG	NP_076493.1:n.3458-54_3458-53insCCCGGGGCTCCAG
NM_000425.5:c.3458-54_3458-53insCCCGGGGCTCCAG	NP_000416.1:n.3458-54_3458-53insCCCGGGGCTCCAG
NM_001278116.2:c.3458-54_3458-53insCCCGGGGCTCCAG MANE Select	NP_001265045.1:n.3458-54_3458-53insCCCGGGGCTCCAG