Canonical Allele Identifier: CA2695206986
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129315646del , CM000668.2:g.129315646del GRCh38
NC_000006.11:g.129636791del , CM000668.1:g.129636791del GRCh37
NC_000006.10:g.129678484del NCBI36
NG_008678.1:g.437506del , LRG_409:g.437506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.3726del ENSP00000481744.2:p.Gly1243GlufsTer4
ENST00000618192.5:c.3990del ENSP00000480802.2:p.Gly1331GlufsTer4
ENST00000421865.3:c.3726del MANE Select ENSP00000400365.2:p.Gly1243GlufsTer4
ENST00000421865.2:c.3726del ENSP00000400365.2:p.Gly1243GlufsTer4
ENST00000617695.4:c.3726del ENSP00000481744.1:p.Gly1243GlufsTer4
ENST00000618192.4:c.3726del ENSP00000480802.1:p.Gly1243GlufsTer4
NM_000426.3:c.3726del , LRG_409t1:c.3726del NP_000417.2:p.Gly1243GlufsTer4
NM_001079823.1:c.3726del NP_001073291.1:p.Gly1243GlufsTer4
XM_005266981.2:c.3990del XP_005267038.1:p.Gly1331GlufsTer4
XM_005266982.2:c.3990del XP_005267039.1:p.Gly1331GlufsTer4
XM_011535820.1:c.3990del XP_011534122.1:p.Gly1331GlufsTer4
XM_005266981.3:c.3990del XP_005267038.1:p.Gly1331GlufsTer4
XM_005266982.3:c.3990del XP_005267039.1:p.Gly1331GlufsTer4
XM_011535820.2:c.3990del XP_011534122.1:p.Gly1331GlufsTer4
XM_017010851.2:c.3996del XP_016866340.1:p.Gly1333GlufsTer4
XM_017010852.1:c.2121del XP_016866341.1:p.Gly708GlufsTer4
XM_017010853.1:c.3990del XP_016866342.1:p.Gly1331GlufsTer4
NM_000426.4:c.3726del MANE Select NP_000417.3:p.Gly1243GlufsTer4
NM_001079823.2:c.3726del NP_001073291.2:p.Gly1243GlufsTer4