Canonical Allele Identifier: CA16040699
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370121
ClinVar RCV Id: RCV000412191
dbSNP Id: rs1057516249

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209630640del , CM000663.2:g.209630640del GRCh38
NC_000001.10:g.209803985del , CM000663.1:g.209803985del GRCh37
NC_000001.9:g.207870608del NCBI36
NG_007116.1:g.26838del

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.920del VV NP_000219.2:p.Gly307AlafsTer?
NM_001017402.1:c.920del VV NP_001017402.1:p.Gly307AlafsTer?
NM_001127641.1:c.920del VV NP_001121113.1:p.Gly307AlafsTer?
XM_005273124.3:c.920del XP_005273181.1:p.Gly307AlafsTer?
XM_005273124.4:c.920del XP_005273181.1:p.Gly307AlafsTer?
XM_017001272.2:c.728del XP_016856761.1:p.Gly243AlafsTer?
NM_000228.3:c.920del VV MANE Preferred NP_000219.2:p.Gly307AlafsTer?
ENST00000356082.8:c.920del ENSP00000348384.3:p.Gly307AlafsTer?
ENST00000367030.7:c.920del ENSP00000355997.3:p.Gly307AlafsTer?
ENST00000391911.5:c.920del ENSP00000375778.1:p.Gly307AlafsTer?