Canonical Allele Identifier: CA16041930
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 371389
ClinVar RCV Id: RCV000411011
dbSNP Id: rs1057517235
MyVariant Identifiers: chr18:g.21461939del (hg19) chr18:g.23881975del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23881975del , CM000680.2:g.23881975del GRCh38
NC_000018.9:g.21461939del , CM000680.1:g.21461939del GRCh37
NC_000018.8:g.19715937del NCBI36
NG_007853.2:g.197378del

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.325del MANE Plus Clinical ENSP00000269217.5:p.Cys109AlafsTer?
ENST00000313654.14:c.5152del MANE Select ENSP00000324532.8:p.Cys1718AlafsTer?
ENST00000649721.1:c.2044del ENSP00000497885.1:p.Cys682AlafsTer?
ENST00000269217.10:c.325del ENSP00000269217.5:p.Cys109AlafsTer?
ENST00000313654.13:c.5152del ENSP00000324532.8:p.Cys1718AlafsTer?
ENST00000399516.7:c.5152del ENSP00000382432.2:p.Cys1718AlafsTer?
ENST00000587184.5:c.325del ENSP00000466557.1:p.Cys109AlafsTer?
NM_000227.4:c.325del NP_000218.3:p.Cys109AlafsTer?
NM_001127717.2:c.5152del NP_001121189.2:p.Cys1718AlafsTer?
NM_001127718.2:c.325del NP_001121190.2:p.Cys109AlafsTer?
NM_198129.2:c.5152del NP_937762.2:p.Cys1718AlafsTer?
XM_011525978.1:c.5179del XP_011524280.1:p.Cys1727AlafsTer?
XM_011525979.1:c.5170del XP_011524281.1:p.Cys1724AlafsTer?
XM_011525980.1:c.5161del XP_011524282.1:p.Cys1721AlafsTer?
XM_011525981.1:c.5047del XP_011524283.1:p.Cys1683AlafsTer?
XM_011525982.1:c.5179del XP_011524284.1:p.Cys1727AlafsTer?
XM_011525978.2:c.5179del XP_011524280.1:p.Cys1727AlafsTer?
XM_011525979.2:c.5170del XP_011524281.1:p.Cys1724AlafsTer?
XM_011525980.2:c.5161del XP_011524282.1:p.Cys1721AlafsTer?
XM_011525981.2:c.5047del XP_011524283.1:p.Cys1683AlafsTer?
XM_011525982.2:c.5179del XP_011524284.1:p.Cys1727AlafsTer?
XM_017025743.1:c.3031del XP_016881232.1:p.Cys1011AlafsTer?
XM_017025744.1:c.721del XP_016881233.1:p.Cys241AlafsTer?
XR_001753199.1:n.5420del
NM_000227.5:c.325del NP_000218.3:p.Cys109AlafsTer?
NM_001127717.3:c.5152del NP_001121189.2:p.Cys1718AlafsTer?
NM_001127718.3:c.325del NP_001121190.2:p.Cys109AlafsTer?
NM_198129.3:c.5152del NP_937762.2:p.Cys1718AlafsTer?
NM_000227.6:c.325del MANE Plus Clinical NP_000218.3:p.Cys109AlafsTer?
NM_001127717.4:c.5152del NP_001121189.2:p.Cys1718AlafsTer?
NM_001127718.4:c.325del NP_001121190.2:p.Cys109AlafsTer?
NM_198129.4:c.5152del MANE Select NP_937762.2:p.Cys1718AlafsTer?
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