Canonical Allele Identifier: CA170649

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7016494del , CM000680.2:g.7016494del	GRCh38
NC_000018.9:g.7016493del , CM000680.1:g.7016493del	GRCh37
NC_000018.8:g.7006493del	NCBI36
NG_034251.1:g.106321del

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.2986del MANE Select	NP_005550.2:p.Thr996HisfsTer28
ENST00000389658.4:c.2986del MANE Select	ENSP00000374309.3:p.Thr996HisfsTer28
NM_005559.3:c.2986del	NP_005550.2:p.Thr996HisfsTer28
ENST00000389658.3:c.2986del	ENSP00000374309.3:p.Thr996HisfsTer28
ENST00000579014.5:n.4001del
XM_011525655.1:c.2986del	XP_011523957.1:p.Thr996HisfsTer28
XM_011525655.2:c.2986del	XP_011523957.1:p.Thr996HisfsTer28
XM_011525656.1:c.1414del	XP_011523958.1:p.Thr472HisfsTer28
XM_011525656.2:c.1414del	XP_011523958.1:p.Thr472HisfsTer28
XM_011525657.1:c.2986del	XP_011523959.1:p.Thr996HisfsTer28