Canonical Allele Identifier: CA1009905773
Gene: LAMC2 HGNC NCBI

Linked Data

gnomAD v3: 1-183243182-TTA-T
gnomAD v4: 1-183243182-TTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243183_183243184del , CM000663.2:g.183243183_183243184del GRCh38
NC_000001.10:g.183212318_183212319del , CM000663.1:g.183212318_183212319del GRCh37
NC_000001.9:g.181478941_181478942del NCBI36
NG_007079.2:g.61920_61921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3365_3366del MANE Select ENSP00000264144.4:p.Leu1122SerfsTer?
ENST00000264144.4:c.3365_3366del ENSP00000264144.4:p.Leu1122SerfsTer?
NM_005562.2:c.3365_3366del NP_005553.2:p.Leu1122SerfsTer?
NM_005562.3:c.3365_3366del MANE Select NP_005553.2:p.Leu1122SerfsTer?
Search 100 bp 5'
Search 100 bp 3'