Canonical Allele Identifier: CA16041939
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370583
ClinVar RCV Id: RCV000412319
dbSNP Id: rs1057516605

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915321del , CM000680.2:g.23915321del GRCh38
NC_000018.9:g.21495285del , CM000680.1:g.21495285del GRCh37
NC_000018.8:g.19749283del NCBI36
NG_007853.2:g.230724del

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.2850del MANE Plus Clinical ENSP00000269217.5:p.Gly951ValfsTer5
ENST00000313654.14:c.7677del MANE Select ENSP00000324532.8:p.Gly2560ValfsTer5
ENST00000649721.1:c.4272del ENSP00000497885.1:p.Gly1425ValfsTer5
ENST00000269217.10:c.2850del ENSP00000269217.5:p.Gly951ValfsTer5
ENST00000313654.13:c.7677del ENSP00000324532.8:p.Gly2560ValfsTer5
ENST00000399516.7:c.7509del ENSP00000382432.2:p.Gly2504ValfsTer5
ENST00000586751.5:c.2455del
ENST00000587184.5:c.2682del ENSP00000466557.1:p.Gly895ValfsTer5
ENST00000588770.5:n.2255del
NM_000227.4:c.2850del NP_000218.3:p.Gly951ValfsTer5
NM_001127717.2:c.7509del NP_001121189.2:p.Gly2504ValfsTer5
NM_001127718.2:c.2682del NP_001121190.2:p.Gly895ValfsTer5
NM_198129.2:c.7677del NP_937762.2:p.Gly2560ValfsTer5
XM_011525978.1:c.7704del XP_011524280.1:p.Gly2569ValfsTer5
XM_011525979.1:c.7695del XP_011524281.1:p.Gly2566ValfsTer5
XM_011525980.1:c.7686del XP_011524282.1:p.Gly2563ValfsTer5
XM_011525981.1:c.7572del XP_011524283.1:p.Gly2525ValfsTer5
XM_011525982.1:c.7407del XP_011524284.1:p.Gly2470ValfsTer5
XM_011525978.2:c.7704del XP_011524280.1:p.Gly2569ValfsTer5
XM_011525979.2:c.7695del XP_011524281.1:p.Gly2566ValfsTer5
XM_011525980.2:c.7686del XP_011524282.1:p.Gly2563ValfsTer5
XM_011525981.2:c.7572del XP_011524283.1:p.Gly2525ValfsTer5
XM_011525982.2:c.7407del XP_011524284.1:p.Gly2470ValfsTer5
XM_017025743.1:c.5556del XP_016881232.1:p.Gly1853ValfsTer5
XM_017025744.1:c.3246del XP_016881233.1:p.Gly1083ValfsTer5
XR_001753199.1:n.7945del
NM_000227.5:c.2850del NP_000218.3:p.Gly951ValfsTer5
NM_001127717.3:c.7509del NP_001121189.2:p.Gly2504ValfsTer5
NM_001127718.3:c.2682del NP_001121190.2:p.Gly895ValfsTer5
NM_198129.3:c.7677del NP_937762.2:p.Gly2560ValfsTer5
NM_000227.6:c.2850del MANE Plus Clinical NP_000218.3:p.Gly951ValfsTer5
NM_001127717.4:c.7509del NP_001121189.2:p.Gly2504ValfsTer5
NM_001127718.4:c.2682del NP_001121190.2:p.Gly895ValfsTer5
NM_198129.4:c.7677del MANE Select NP_937762.2:p.Gly2560ValfsTer5