Canonical Allele Identifier: CA2579732729

Gene: L1CAM

Linked Data

• gnomAD v4: X-153866594-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866598del , CM000685.2:g.153866598del	GRCh38
NC_000023.10:g.153132053del , CM000685.1:g.153132053del	GRCh37
NC_000023.9:g.152785247del	NCBI36
NG_009645.3:g.47629del
NG_009645.4:g.24579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2431+54del MANE Select	ENSP00000359077.1:n.2431+54del
ENST00000361699.8:c.2431+54del	ENSP00000355380.4:n.2431+54del
ENST00000361981.7:c.2416+54del	ENSP00000354712.3:n.2416+54del
ENST00000370055.5:c.2416+54del	ENSP00000359072.1:n.2416+54del
ENST00000370060.5:c.2431+54del	ENSP00000359077.1:n.2431+54del
NM_000425.4:c.2431+54del	NP_000416.1:n.2431+54del
NM_001143963.2:c.2416+54del	NP_001137435.1:n.2416+54del
NM_001278116.1:c.2431+54del	NP_001265045.1:n.2431+54del
NM_024003.3:c.2431+54del	NP_076493.1:n.2431+54del
NM_000425.5:c.2431+54del	NP_000416.1:n.2431+54del
NM_001278116.2:c.2431+54del MANE Select	NP_001265045.1:n.2431+54del