Canonical Allele Identifier: CA2466504769
Gene: L1CAM HGNC NCBI

Linked Data

dbSNP Id: rs2064684610

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863720del , CM000685.2:g.153863720del GRCh38
NC_000023.10:g.153129175del , CM000685.1:g.153129175del GRCh37
NC_000023.9:g.152782369del NCBI36
NG_009645.3:g.50507del
NG_009645.4:g.27457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3457+166del MANE Select ENSP00000359077.1:n.3457+166del
ENST00000361699.8:c.3457+166del ENSP00000355380.4:n.3457+166del
ENST00000361981.7:c.3442+166del ENSP00000354712.3:n.3442+166del
ENST00000370055.5:c.3442+166del ENSP00000359072.1:n.3442+166del
ENST00000370058.7:c.158-168del ENSP00000359075.3:n.158-168del
ENST00000370060.5:c.3457+166del ENSP00000359077.1:n.3457+166del
ENST00000491983.1:n.253del
NM_000425.4:c.3457+166del NP_000416.1:n.3457+166del
NM_001143963.2:c.3442+166del NP_001137435.1:n.3442+166del
NM_001278116.1:c.3457+166del NP_001265045.1:n.3457+166del
NM_024003.3:c.3457+166del NP_076493.1:n.3457+166del
NM_000425.5:c.3457+166del NP_000416.1:n.3457+166del
NM_001278116.2:c.3457+166del MANE Select NP_001265045.1:n.3457+166del