Canonical Allele Identifier: CA645151949

Gene: L1CAM

Linked Data

• dbSNP Id: rs1557092362
• gnomAD v2: X-153135209-GC-G
• gnomAD v4: X-153869754-GC-G
• MyVariant Identifiers: chrX:g.153135210del (hg19) ; chrX:g.153869755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153869759del , CM000685.2:g.153869759del	GRCh38
NC_000023.10:g.153135214del , CM000685.1:g.153135214del	GRCh37
NC_000023.9:g.152788408del	NCBI36
NG_009645.3:g.44469del
NG_009645.4:g.21419del

Transcript Alleles

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