Canonical Allele Identifier: CA2576450389
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015653_7015655del , CM000680.2:g.7015653_7015655del GRCh38
NC_000018.9:g.7015652_7015654del , CM000680.1:g.7015652_7015654del GRCh37
NC_000018.8:g.7005652_7005654del NCBI36
NG_034251.1:g.107164_107166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+71_3126+73del MANE Select ENSP00000374309.3:n.3126+71_3126+73del
ENST00000389658.3:c.3126+71_3126+73del ENSP00000374309.3:n.3126+71_3126+73del
ENST00000579014.5:n.4141+71_4141+73del
NM_005559.3:c.3126+71_3126+73del NP_005550.2:n.3126+71_3126+73del
XM_011525655.1:c.3126+71_3126+73del XP_011523957.1:n.3126+71_3126+73del
XM_011525656.1:c.1554+71_1554+73del XP_011523958.1:n.1554+71_1554+73del
XM_011525657.1:c.3126+71_3126+73del XP_011523959.1:n.3126+71_3126+73del
XM_011525655.2:c.3126+71_3126+73del XP_011523957.1:n.3126+71_3126+73del
XM_011525656.2:c.1554+71_1554+73del XP_011523958.1:n.1554+71_1554+73del
NM_005559.4:c.3126+71_3126+73del MANE Select NP_005550.2:n.3126+71_3126+73del