Canonical Allele Identifier: CA16040710
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370941
ClinVar RCV Id: RCV000412261
dbSNP Id: rs1057516884

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209650078_209650079del , CM000663.2:g.209650078_209650079del GRCh38
NC_000001.9:g.207890046_207890047del NCBI36
NC_000001.10:g.209823423_209823424del , CM000663.1:g.209823423_209823424del GRCh37
NG_007116.1:g.7398_7399del

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.8:c.69_70del ENSP00000348384.3:p.Ala25LeufsTer28
ENST00000367030.7:c.69_70del ENSP00000355997.3:p.Ala25LeufsTer28
ENST00000391911.5:c.69_70del ENSP00000375778.1:p.Ala25LeufsTer28
ENST00000415782.1:c.69_70del ENSP00000388960.1:p.Ala25LeufsTer28
NM_000228.2:c.69_70del NP_000219.2:p.Ala25LeufsTer28
NM_001017402.1:c.69_70del NP_001017402.1:p.Ala25LeufsTer28
NM_001127641.1:c.69_70del NP_001121113.1:p.Ala25LeufsTer28
XM_005273124.3:c.69_70del XP_005273181.1:p.Ala25LeufsTer28