Canonical Allele Identifier: CA2965506636
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876298_23876299del , CM000680.2:g.23876298_23876299del GRCh38
NC_000018.9:g.21456262_21456263del , CM000680.1:g.21456262_21456263del GRCh37
NC_000018.8:g.19710260_19710261del NCBI36
NG_007853.2:g.191701_191702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.176_177del MANE Plus Clinical ENSP00000269217.5:p.Cys59Ter
ENST00000313654.14:c.5003_5004del MANE Select ENSP00000324532.8:p.Cys1668Ter
ENST00000649721.1:c.1895_1896del ENSP00000497885.1:p.Cys632Ter
ENST00000269217.10:c.176_177del ENSP00000269217.5:p.Cys59Ter
ENST00000313654.13:c.5003_5004del ENSP00000324532.8:p.Cys1668Ter
ENST00000399516.7:c.5003_5004del ENSP00000382432.2:p.Cys1668Ter
ENST00000587184.5:c.176_177del ENSP00000466557.1:p.Cys59Ter
NM_000227.4:c.176_177del NP_000218.3:p.Cys59Ter
NM_001127717.2:c.5003_5004del NP_001121189.2:p.Cys1668Ter
NM_001127718.2:c.176_177del NP_001121190.2:p.Cys59Ter
NM_198129.2:c.5003_5004del NP_937762.2:p.Cys1668Ter
XM_011525978.1:c.5030_5031del XP_011524280.1:p.Cys1677Ter
XM_011525979.1:c.5021_5022del XP_011524281.1:p.Cys1674Ter
XM_011525980.1:c.5012_5013del XP_011524282.1:p.Cys1671Ter
XM_011525981.1:c.4898_4899del XP_011524283.1:p.Cys1633Ter
XM_011525982.1:c.5030_5031del XP_011524284.1:p.Cys1677Ter
XM_011525978.2:c.5030_5031del XP_011524280.1:p.Cys1677Ter
XM_011525979.2:c.5021_5022del XP_011524281.1:p.Cys1674Ter
XM_011525980.2:c.5012_5013del XP_011524282.1:p.Cys1671Ter
XM_011525981.2:c.4898_4899del XP_011524283.1:p.Cys1633Ter
XM_011525982.2:c.5030_5031del XP_011524284.1:p.Cys1677Ter
XM_017025743.1:c.2882_2883del XP_016881232.1:p.Cys961Ter
XM_017025744.1:c.572_573del XP_016881233.1:p.Cys191Ter
XR_001753199.1:n.5271_5272del
NM_000227.5:c.176_177del NP_000218.3:p.Cys59Ter
NM_001127717.3:c.5003_5004del NP_001121189.2:p.Cys1668Ter
NM_001127718.3:c.176_177del NP_001121190.2:p.Cys59Ter
NM_198129.3:c.5003_5004del NP_937762.2:p.Cys1668Ter
NM_000227.6:c.176_177del MANE Plus Clinical NP_000218.3:p.Cys59Ter
NM_001127717.4:c.5003_5004del NP_001121189.2:p.Cys1668Ter
NM_001127718.4:c.176_177del NP_001121190.2:p.Cys59Ter
NM_198129.4:c.5003_5004del MANE Select NP_937762.2:p.Cys1668Ter