Canonical Allele Identifier: CA2578756834
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465383_129465384del , CM000668.2:g.129465383_129465384del GRCh38
NC_000006.11:g.129786528_129786529del , CM000668.1:g.129786528_129786529del GRCh37
NC_000006.10:g.129828221_129828222del NCBI36
NG_008678.1:g.587243_587244del , LRG_409:g.587243_587244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7300+94_7300+95del ENSP00000481744.2:n.7300+94_7300+95del
ENST00000618192.5:c.7564+94_7564+95del ENSP00000480802.2:n.7564+94_7564+95del
ENST00000684985.1:n.931+94_931+95del
ENST00000421865.3:c.7300+94_7300+95del MANE Select ENSP00000400365.2:n.7300+94_7300+95del
ENST00000421865.2:c.7300+94_7300+95del ENSP00000400365.2:n.7300+94_7300+95del
ENST00000617695.4:c.7300+94_7300+95del ENSP00000481744.1:n.7300+94_7300+95del
ENST00000618192.4:c.7297+94_7297+95del ENSP00000480802.1:n.7297+94_7297+95del
NM_000426.3:c.7300+94_7300+95del , LRG_409t1:c.7300+94_7300+95del NP_000417.2:n.7300+94_7300+95del
NM_001079823.1:c.7300+94_7300+95del NP_001073291.1:n.7300+94_7300+95del
XM_005266981.2:c.7564+94_7564+95del XP_005267038.1:n.7564+94_7564+95del
XM_005266982.2:c.7564+94_7564+95del XP_005267039.1:n.7564+94_7564+95del
XM_011535820.1:c.7558+94_7558+95del XP_011534122.1:n.7558+94_7558+95del
XM_005266981.3:c.7564+94_7564+95del XP_005267038.1:n.7564+94_7564+95del
XM_005266982.3:c.7564+94_7564+95del XP_005267039.1:n.7564+94_7564+95del
XM_011535820.2:c.7558+94_7558+95del XP_011534122.1:n.7558+94_7558+95del
XM_017010851.2:c.7570+94_7570+95del XP_016866340.1:n.7570+94_7570+95del
XM_017010852.1:c.5695+94_5695+95del XP_016866341.1:n.5695+94_5695+95del
NM_000426.4:c.7300+94_7300+95del MANE Select NP_000417.3:n.7300+94_7300+95del
NM_001079823.2:c.7300+94_7300+95del NP_001073291.2:n.7300+94_7300+95del