Canonical Allele Identifier: CA1138548904

Gene: L1CAM

Linked Data

• dbSNP Id: rs2064757083
• gnomAD v3: X-153870352-GC-G
• gnomAD v4: X-153870352-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153870355del , CM000685.2:g.153870355del	GRCh38
NC_000023.10:g.153135810del , CM000685.1:g.153135810del	GRCh37
NC_000023.9:g.152789004del	NCBI36
NG_009645.3:g.43871del
NG_009645.4:g.20821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.806+35del MANE Select	ENSP00000359077.1:n.806+35del
ENST00000361699.8:c.806+35del	ENSP00000355380.4:n.806+35del
ENST00000361981.7:c.791+35del	ENSP00000354712.3:n.791+35del
ENST00000370055.5:c.791+35del	ENSP00000359072.1:n.791+35del
ENST00000370060.5:c.806+35del	ENSP00000359077.1:n.806+35del
NM_000425.4:c.806+35del	NP_000416.1:n.806+35del
NM_001143963.2:c.791+35del	NP_001137435.1:n.791+35del
NM_001278116.1:c.806+35del	NP_001265045.1:n.806+35del
NM_024003.3:c.806+35del	NP_076493.1:n.806+35del
NM_000425.5:c.806+35del	NP_000416.1:n.806+35del
NM_001278116.2:c.806+35del MANE Select	NP_001265045.1:n.806+35del