Canonical Allele Identifier: CA2499225247

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7040093_7040094del , CM000680.2:g.7040093_7040094del	GRCh38
NC_000018.9:g.7040092_7040093del , CM000680.1:g.7040092_7040093del	GRCh37
NC_000018.8:g.7030092_7030093del	NCBI36
NG_034251.1:g.82721_82722del

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.1404_1405del MANE Select	NP_005550.2:p.Gly469AlafsTer5
ENST00000389658.4:c.1404_1405del MANE Select	ENSP00000374309.3:p.Gly469AlafsTer5
NM_005559.3:c.1404_1405del	NP_005550.2:p.Gly469AlafsTer5
ENST00000389658.3:c.1404_1405del	ENSP00000374309.3:p.Gly469AlafsTer5
ENST00000579014.5:n.2419_2420del
ENST00000585178.1:n.144_145del
XM_011525655.1:c.1404_1405del	XP_011523957.1:p.Gly469AlafsTer5
XM_011525655.2:c.1404_1405del	XP_011523957.1:p.Gly469AlafsTer5
XM_011525657.1:c.1404_1405del	XP_011523959.1:p.Gly469AlafsTer5