Canonical Allele Identifier: CA2810869190
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015610_7015612del , CM000680.2:g.7015610_7015612del GRCh38
NC_000018.9:g.7015609_7015611del , CM000680.1:g.7015609_7015611del GRCh37
NC_000018.8:g.7005609_7005611del NCBI36
NG_034251.1:g.107203_107205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+110_3126+112del MANE Select ENSP00000374309.3:n.3126+110_3126+112del
ENST00000389658.3:c.3126+110_3126+112del ENSP00000374309.3:n.3126+110_3126+112del
ENST00000579014.5:n.4141+110_4141+112del
NM_005559.3:c.3126+110_3126+112del NP_005550.2:n.3126+110_3126+112del
XM_011525655.1:c.3126+110_3126+112del XP_011523957.1:n.3126+110_3126+112del
XM_011525656.1:c.1554+110_1554+112del XP_011523958.1:n.1554+110_1554+112del
XM_011525657.1:c.3126+110_3126+112del XP_011523959.1:n.3126+110_3126+112del
XM_011525655.2:c.3126+110_3126+112del XP_011523957.1:n.3126+110_3126+112del
XM_011525656.2:c.1554+110_1554+112del XP_011523958.1:n.1554+110_1554+112del
NM_005559.4:c.3126+110_3126+112del MANE Select NP_005550.2:n.3126+110_3126+112del