Canonical Allele Identifier: CA2695067106

Gene: L1CAM

Linked Data

• gnomAD v4: X-153863694-G-GTTTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153863695_153863696insTTCTTT , CM000685.2:g.153863695_153863696insTTCTTT	GRCh38
NC_000023.10:g.153129150_153129151insTTCTTT , CM000685.1:g.153129150_153129151insTTCTTT	GRCh37
NC_000023.9:g.152782344_152782345insTTCTTT	NCBI36
NG_009645.3:g.50529_50530insAAGAAA
NG_009645.4:g.27479_27480insAAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370060.7:c.3458-146_3458-145insAAGAAA MANE Select	ENSP00000359077.1:n.3458-146_3458-145insAAGAAA
ENST00000361699.8:c.3458-146_3458-145insAAGAAA	ENSP00000355380.4:n.3458-146_3458-145insAAGAAA
ENST00000361981.7:c.3443-146_3443-145insAAGAAA	ENSP00000354712.3:n.3443-146_3443-145insAAGAAA
ENST00000370055.5:c.3443-146_3443-145insAAGAAA	ENSP00000359072.1:n.3443-146_3443-145insAAGAAA
ENST00000370058.7:c.158-146_158-145insAAGAAA	ENSP00000359075.3:n.158-146_158-145insAAGAAA
ENST00000370060.5:c.3458-146_3458-145insAAGAAA	ENSP00000359077.1:n.3458-146_3458-145insAAGAAA
ENST00000491983.1:n.275_276insAAGAAA
NM_000425.4:c.3458-146_3458-145insAAGAAA	NP_000416.1:n.3458-146_3458-145insAAGAAA
NM_001143963.2:c.3443-146_3443-145insAAGAAA	NP_001137435.1:n.3443-146_3443-145insAAGAAA
NM_001278116.1:c.3458-146_3458-145insAAGAAA	NP_001265045.1:n.3458-146_3458-145insAAGAAA
NM_024003.3:c.3458-146_3458-145insAAGAAA	NP_076493.1:n.3458-146_3458-145insAAGAAA
NM_000425.5:c.3458-146_3458-145insAAGAAA	NP_000416.1:n.3458-146_3458-145insAAGAAA
NM_001278116.2:c.3458-146_3458-145insAAGAAA MANE Select	NP_001265045.1:n.3458-146_3458-145insAAGAAA