Canonical Allele Identifier: CA645151045

Gene: L1CAM

Linked Data

• dbSNP Id: rs1361871653
• gnomAD v2: X-153129080-AC-A
• gnomAD v4: X-153863625-AC-A
• MyVariant Identifiers: chrX:g.153129081del (hg19) ; chrX:g.153863626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863630del , CM000685.2:g.153863630del	GRCh38
NC_000023.10:g.153129085del , CM000685.1:g.153129085del	GRCh37
NC_000023.9:g.152782279del	NCBI36
NG_009645.3:g.50598del
NG_009645.4:g.27548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3458-77del MANE Select	ENSP00000359077.1:n.3458-77del
ENST00000361699.8:c.3458-77del	ENSP00000355380.4:n.3458-77del
ENST00000361981.7:c.3443-77del	ENSP00000354712.3:n.3443-77del
ENST00000370055.5:c.3443-77del	ENSP00000359072.1:n.3443-77del
ENST00000370058.7:c.158-77del	ENSP00000359075.3:n.158-77del
ENST00000370060.5:c.3458-77del	ENSP00000359077.1:n.3458-77del
ENST00000491983.1:n.344del
NM_000425.4:c.3458-77del	NP_000416.1:n.3458-77del
NM_001143963.2:c.3443-77del	NP_001137435.1:n.3443-77del
NM_001278116.1:c.3458-77del	NP_001265045.1:n.3458-77del
NM_024003.3:c.3458-77del	NP_076493.1:n.3458-77del
NM_000425.5:c.3458-77del	NP_000416.1:n.3458-77del
NM_001278116.2:c.3458-77del MANE Select	NP_001265045.1:n.3458-77del