Canonical Allele Identifier: CA2466506095

Gene: L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153866840_153866841delinsTG , CM000685.2:g.153866840_153866841delinsTG	GRCh38
NC_000023.10:g.153132295_153132296delinsTG , CM000685.1:g.153132295_153132296delinsTG	GRCh37
NC_000023.9:g.152785489_152785490delinsTG	NCBI36
NG_009645.3:g.47383_47384delinsCA
NG_009645.4:g.24333_24334delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.2239_2240delinsCA MANE Select	ENSP00000359077.1:p.Gln747=
ENST00000361699.8:c.2239_2240delinsCA	ENSP00000355380.4:p.Gln747=
ENST00000361981.7:c.2224_2225delinsCA	ENSP00000354712.3:p.Gln742=
ENST00000370055.5:c.2224_2225delinsCA	ENSP00000359072.1:p.Gln742=
ENST00000370060.5:c.2239_2240delinsCA	ENSP00000359077.1:p.Gln747=
ENST00000455590.1:c.501_502delinsCA
NM_000425.4:c.2239_2240delinsCA	NP_000416.1:p.Gln747=
NM_001143963.2:c.2224_2225delinsCA	NP_001137435.1:p.Gln742=
NM_001278116.1:c.2239_2240delinsCA	NP_001265045.1:p.Gln747=
NM_024003.3:c.2239_2240delinsCA	NP_076493.1:p.Gln747=
NM_000425.5:c.2239_2240delinsCA	NP_000416.1:p.Gln747=
NM_001278116.2:c.2239_2240delinsCA MANE Select	NP_001265045.1:p.Gln747=