Canonical Allele Identifier: CA2695067048

Gene: L1CAM

Linked Data

• gnomAD v4: X-153863603-T-TGGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863603_153863604insGGAGCC , CM000685.2:g.153863603_153863604insGGAGCC	GRCh38
NC_000023.10:g.153129058_153129059insGGAGCC , CM000685.1:g.153129058_153129059insGGAGCC	GRCh37
NC_000023.9:g.152782252_152782253insGGAGCC	NCBI36
NG_009645.3:g.50620_50621insGGCTCC
NG_009645.4:g.27570_27571insGGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3458-55_3458-54insGGCTCC MANE Select	ENSP00000359077.1:n.3458-55_3458-54insGGCTCC
ENST00000361699.8:c.3458-55_3458-54insGGCTCC	ENSP00000355380.4:n.3458-55_3458-54insGGCTCC
ENST00000361981.7:c.3443-55_3443-54insGGCTCC	ENSP00000354712.3:n.3443-55_3443-54insGGCTCC
ENST00000370055.5:c.3443-55_3443-54insGGCTCC	ENSP00000359072.1:n.3443-55_3443-54insGGCTCC
ENST00000370058.7:c.158-55_158-54insGGCTCC	ENSP00000359075.3:n.158-55_158-54insGGCTCC
ENST00000370060.5:c.3458-55_3458-54insGGCTCC	ENSP00000359077.1:n.3458-55_3458-54insGGCTCC
ENST00000491983.1:n.366_367insGGCTCC
NM_000425.4:c.3458-55_3458-54insGGCTCC	NP_000416.1:n.3458-55_3458-54insGGCTCC
NM_001143963.2:c.3443-55_3443-54insGGCTCC	NP_001137435.1:n.3443-55_3443-54insGGCTCC
NM_001278116.1:c.3458-55_3458-54insGGCTCC	NP_001265045.1:n.3458-55_3458-54insGGCTCC
NM_024003.3:c.3458-55_3458-54insGGCTCC	NP_076493.1:n.3458-55_3458-54insGGCTCC
NM_000425.5:c.3458-55_3458-54insGGCTCC	NP_000416.1:n.3458-55_3458-54insGGCTCC
NM_001278116.2:c.3458-55_3458-54insGGCTCC MANE Select	NP_001265045.1:n.3458-55_3458-54insGGCTCC