Canonical Allele Identifier: CA2466504758
Gene: L1CAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153863698_153863715delinsAGCCACCACTTGCCTGTT , CM000685.2:g.153863698_153863715delinsAGCCACCACTTGCCTGTT GRCh38
NC_000023.10:g.153129153_153129170delinsAGCCACCACTTGCCTGTT , CM000685.1:g.153129153_153129170delinsAGCCACCACTTGCCTGTT GRCh37
NC_000023.9:g.152782347_152782364delinsAGCCACCACTTGCCTGTT NCBI36
NG_009645.3:g.50509_50526delinsAACAGGCAAGTGGTGGCT
NG_009645.4:g.27459_27476delinsAACAGGCAAGTGGTGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370060.7:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT MANE Select ENSP00000359077.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT...
ENST00000361699.8:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT ENSP00000355380.4:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT...
ENST00000361981.7:c.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT ENSP00000354712.3:n.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT...
ENST00000370055.5:c.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT ENSP00000359072.1:n.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT...
ENST00000370058.7:c.158-166_158-149delinsAACAGGCAAGTGGTGGCT ENSP00000359075.3:n.158-166_158-149delinsAACAGGCAAGTGGTGGCT
ENST00000370060.5:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT ENSP00000359077.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT...
ENST00000491983.1:n.255_272delinsAACAGGCAAGTGGTGGCT
NM_000425.4:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT NP_000416.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT
NM_001143963.2:c.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT NP_001137435.1:n.3443-166_3443-149delinsAACAGGCAAGTGGTGGCT
NM_001278116.1:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT NP_001265045.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT
NM_024003.3:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT NP_076493.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT
NM_000425.5:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT NP_000416.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT
NM_001278116.2:c.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT MANE Select NP_001265045.1:n.3458-166_3458-149delinsAACAGGCAAGTGGTGGCT