Canonical Allele Identifier: CA1663115620
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129349673_129349674delinsTC , CM000668.2:g.129349673_129349674delinsTC GRCh38
NC_000006.11:g.129670818_129670819delinsTC , CM000668.1:g.129670818_129670819delinsTC GRCh37
NC_000006.10:g.129712511_129712512delinsTC NCBI36
NG_008678.1:g.471533_471534delinsTC , LRG_409:g.471533_471534delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.4523+289_4523+290delinsTC ENSP00000481744.2:n.4523+289_4523+290delinsTC
ENST00000618192.5:c.4787+289_4787+290delinsTC ENSP00000480802.2:n.4787+289_4787+290delinsTC
ENST00000692206.1:n.172+289_172+290delinsTC
ENST00000693425.1:n.49+289_49+290delinsTC
ENST00000421865.3:c.4523+289_4523+290delinsTC MANE Select ENSP00000400365.2:n.4523+289_4523+290delinsTC
ENST00000421865.2:c.4523+289_4523+290delinsTC ENSP00000400365.2:n.4523+289_4523+290delinsTC
ENST00000617695.4:c.4523+289_4523+290delinsTC ENSP00000481744.1:n.4523+289_4523+290delinsTC
ENST00000618192.4:c.4523+289_4523+290delinsTC ENSP00000480802.1:n.4523+289_4523+290delinsTC
NM_000426.3:c.4523+289_4523+290delinsTC , LRG_409t1:c.4523+289_4523+290delinsTC NP_000417.2:n.4523+289_4523+290delinsTC
NM_001079823.1:c.4523+289_4523+290delinsTC NP_001073291.1:n.4523+289_4523+290delinsTC
XM_005266981.2:c.4787+289_4787+290delinsTC XP_005267038.1:n.4787+289_4787+290delinsTC
XM_005266982.2:c.4787+289_4787+290delinsTC XP_005267039.1:n.4787+289_4787+290delinsTC
XM_011535820.1:c.4787+289_4787+290delinsTC XP_011534122.1:n.4787+289_4787+290delinsTC
XM_005266981.3:c.4787+289_4787+290delinsTC XP_005267038.1:n.4787+289_4787+290delinsTC
XM_005266982.3:c.4787+289_4787+290delinsTC XP_005267039.1:n.4787+289_4787+290delinsTC
XM_011535820.2:c.4787+289_4787+290delinsTC XP_011534122.1:n.4787+289_4787+290delinsTC
XM_017010851.2:c.4793+289_4793+290delinsTC XP_016866340.1:n.4793+289_4793+290delinsTC
XM_017010852.1:c.2918+289_2918+290delinsTC XP_016866341.1:n.2918+289_2918+290delinsTC
XM_017010853.1:c.4787+289_4787+290delinsTC XP_016866342.1:n.4787+289_4787+290delinsTC
NM_000426.4:c.4523+289_4523+290delinsTC MANE Select NP_000417.3:n.4523+289_4523+290delinsTC
NM_001079823.2:c.4523+289_4523+290delinsTC NP_001073291.2:n.4523+289_4523+290delinsTC