Canonical Allele Identifier: CA8915872
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370752
ClinVar RCV Id: RCV000412059

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876344del , CM000680.2:g.23876344del GRCh38
NC_000018.8:g.19710306del NCBI36
NC_000018.9:g.21456308del , CM000680.1:g.21456308del GRCh37
NG_007853.2:g.191747del

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.10:c.222del ENSP00000269217.5:p.Cys75ValfsTer?
ENST00000313654.13:c.5049del ENSP00000324532.8:p.Cys1684ValfsTer?
ENST00000399516.7:n.5049del ENSP00000382432.2:p.Cys1684ValfsTer?
ENST00000587184.5:n.222del ENSP00000466557.1:p.Cys75ValfsTer?
NM_000227.4:c.222del VV NP_000218.3:p.Cys75ValfsTer?
NM_001127717.2:c.5049del VV NP_001121189.2:p.Cys1684ValfsTer?
NM_001127718.2:c.222del VV NP_001121190.2:p.Cys75ValfsTer?
NM_198129.2:c.5049del VV NP_937762.2:p.Cys1684ValfsTer?
XM_011525978.1:c.5076del XP_011524280.1:p.Cys1693ValfsTer?
XM_011525979.1:c.5067del XP_011524281.1:p.Cys1690ValfsTer?
XM_011525980.1:c.5058del XP_011524282.1:p.Cys1687ValfsTer?
XM_011525981.1:c.4944del XP_011524283.1:p.Cys1649ValfsTer?
XM_011525982.1:c.5076del XP_011524284.1:p.Cys1693ValfsTer?