Canonical Allele Identifier: CA2466504768

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863716_153863717delinsGC , CM000685.2:g.153863716_153863717delinsGC	GRCh38
NC_000023.10:g.153129171_153129172delinsGC , CM000685.1:g.153129171_153129172delinsGC	GRCh37
NC_000023.9:g.152782365_152782366delinsGC	NCBI36
NG_009645.3:g.50507_50508delinsGC
NG_009645.4:g.27457_27458delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3457+166_3458-167delinsGC MANE Select	ENSP00000359077.1:n.3457+166_3458-167delinsGC
ENST00000361699.8:c.3457+166_3458-167delinsGC	ENSP00000355380.4:n.3457+166_3458-167delinsGC
ENST00000361981.7:c.3442+166_3443-167delinsGC	ENSP00000354712.3:n.3442+166_3443-167delinsGC
ENST00000370055.5:c.3442+166_3443-167delinsGC	ENSP00000359072.1:n.3442+166_3443-167delinsGC
ENST00000370058.7:c.158-168_158-167delinsGC	ENSP00000359075.3:n.158-168_158-167delinsGC
ENST00000370060.5:c.3457+166_3458-167delinsGC	ENSP00000359077.1:n.3457+166_3458-167delinsGC
ENST00000491983.1:n.253_254delinsGC
NM_000425.4:c.3457+166_3458-167delinsGC	NP_000416.1:n.3457+166_3458-167delinsGC
NM_001143963.2:c.3442+166_3443-167delinsGC	NP_001137435.1:n.3442+166_3443-167delinsGC
NM_001278116.1:c.3457+166_3458-167delinsGC	NP_001265045.1:n.3457+166_3458-167delinsGC
NM_024003.3:c.3457+166_3458-167delinsGC	NP_076493.1:n.3457+166_3458-167delinsGC
NM_000425.5:c.3457+166_3458-167delinsGC	NP_000416.1:n.3457+166_3458-167delinsGC
NM_001278116.2:c.3457+166_3458-167delinsGC MANE Select	NP_001265045.1:n.3457+166_3458-167delinsGC