Canonical Allele Identifier: CA2466506902

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869754_153869755delinsGC , CM000685.2:g.153869754_153869755delinsGC	GRCh38
NC_000023.10:g.153135209_153135210delinsGC , CM000685.1:g.153135209_153135210delinsGC	GRCh37
NC_000023.9:g.152788403_152788404delinsGC	NCBI36
NG_009645.3:g.44469_44470delinsGC
NG_009645.4:g.21419_21420delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.1123+48_1123+49delinsGC MANE Select	ENSP00000359077.1:n.1123+48_1123+49delinsGC
ENST00000361699.8:c.1123+48_1123+49delinsGC	ENSP00000355380.4:n.1123+48_1123+49delinsGC
ENST00000361981.7:c.1108+48_1108+49delinsGC	ENSP00000354712.3:n.1108+48_1108+49delinsGC
ENST00000370055.5:c.1108+48_1108+49delinsGC	ENSP00000359072.1:n.1108+48_1108+49delinsGC
ENST00000370060.5:c.1123+48_1123+49delinsGC	ENSP00000359077.1:n.1123+48_1123+49delinsGC
NM_000425.4:c.1123+48_1123+49delinsGC	NP_000416.1:n.1123+48_1123+49delinsGC
NM_001143963.2:c.1108+48_1108+49delinsGC	NP_001137435.1:n.1108+48_1108+49delinsGC
NM_001278116.1:c.1123+48_1123+49delinsGC	NP_001265045.1:n.1123+48_1123+49delinsGC
NM_024003.3:c.1123+48_1123+49delinsGC	NP_076493.1:n.1123+48_1123+49delinsGC
NM_000425.5:c.1123+48_1123+49delinsGC	NP_000416.1:n.1123+48_1123+49delinsGC
NM_001278116.2:c.1123+48_1123+49delinsGC MANE Select	NP_001265045.1:n.1123+48_1123+49delinsGC