Canonical Allele Identifier: CA2578737937
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481450_129481451del , CM000668.2:g.129481450_129481451del GRCh38
NC_000006.11:g.129802595_129802596del , CM000668.1:g.129802595_129802596del GRCh37
NC_000006.10:g.129844288_129844289del NCBI36
NG_008678.1:g.603310_603311del , LRG_409:g.603310_603311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7737+11_7737+12del ENSP00000481744.2:n.7737+11_7737+12del
ENST00000618192.5:c.8013+11_8013+12del ENSP00000480802.2:n.8013+11_8013+12del
ENST00000421865.3:c.7749+11_7749+12del MANE Select ENSP00000400365.2:n.7749+11_7749+12del
ENST00000421865.2:c.7749+11_7749+12del ENSP00000400365.2:n.7749+11_7749+12del
ENST00000617695.4:c.7737+11_7737+12del ENSP00000481744.1:n.7737+11_7737+12del
ENST00000618192.4:c.7746+11_7746+12del ENSP00000480802.1:n.7746+11_7746+12del
NM_000426.3:c.7749+11_7749+12del , LRG_409t1:c.7749+11_7749+12del NP_000417.2:n.7749+11_7749+12del
NM_001079823.1:c.7737+11_7737+12del NP_001073291.1:n.7737+11_7737+12del
XM_005266981.2:c.8013+11_8013+12del XP_005267038.1:n.8013+11_8013+12del
XM_005266982.2:c.8001+11_8001+12del XP_005267039.1:n.8001+11_8001+12del
XM_011535820.1:c.8007+11_8007+12del XP_011534122.1:n.8007+11_8007+12del
XM_005266981.3:c.8013+11_8013+12del XP_005267038.1:n.8013+11_8013+12del
XM_005266982.3:c.8001+11_8001+12del XP_005267039.1:n.8001+11_8001+12del
XM_011535820.2:c.8007+11_8007+12del XP_011534122.1:n.8007+11_8007+12del
XM_017010851.2:c.8019+11_8019+12del XP_016866340.1:n.8019+11_8019+12del
XM_017010852.1:c.6144+11_6144+12del XP_016866341.1:n.6144+11_6144+12del
NM_000426.4:c.7749+11_7749+12del MANE Select NP_000417.3:n.7749+11_7749+12del
NM_001079823.2:c.7737+11_7737+12del NP_001073291.2:n.7737+11_7737+12del