Canonical Allele Identifier: CA645546660
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129315509del , CM000668.2:g.129315509del GRCh38
NC_000006.11:g.129636654del , CM000668.1:g.129636654del GRCh37
NC_000006.10:g.129678347del NCBI36
NG_008678.1:g.437369del , LRG_409:g.437369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.3589del ENSP00000481744.2:p.Leu1197TrpfsTer2
ENST00000618192.5:c.3853del ENSP00000480802.2:p.Leu1285TrpfsTer2
ENST00000421865.3:c.3589del MANE Select ENSP00000400365.2:p.Leu1197TrpfsTer2
ENST00000421865.2:c.3589del ENSP00000400365.2:p.Leu1197TrpfsTer2
ENST00000617695.4:c.3589del ENSP00000481744.1:p.Leu1197TrpfsTer2
ENST00000618192.4:c.3589del ENSP00000480802.1:p.Leu1197TrpfsTer2
NM_000426.3:c.3589del , LRG_409t1:c.3589del NP_000417.2:p.Leu1197TrpfsTer2
NM_001079823.1:c.3589del NP_001073291.1:p.Leu1197TrpfsTer2
XM_005266981.2:c.3853del XP_005267038.1:p.Leu1285TrpfsTer2
XM_005266982.2:c.3853del XP_005267039.1:p.Leu1285TrpfsTer2
XM_011535820.1:c.3853del XP_011534122.1:p.Leu1285TrpfsTer2
XM_005266981.3:c.3853del XP_005267038.1:p.Leu1285TrpfsTer2
XM_005266982.3:c.3853del XP_005267039.1:p.Leu1285TrpfsTer2
XM_011535820.2:c.3853del XP_011534122.1:p.Leu1285TrpfsTer2
XM_017010851.2:c.3859del XP_016866340.1:p.Leu1287TrpfsTer2
XM_017010852.1:c.1984del XP_016866341.1:p.Leu662TrpfsTer2
XM_017010853.1:c.3853del XP_016866342.1:p.Leu1285TrpfsTer2
NM_000426.4:c.3589del MANE Select NP_000417.3:p.Leu1197TrpfsTer2
NM_001079823.2:c.3589del NP_001073291.2:p.Leu1197TrpfsTer2