Canonical Allele Identifier: CA2640920296

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7015788-T-TGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015789_7015790insAGCCG , CM000680.2:g.7015789_7015790insAGCCG	GRCh38
NC_000018.9:g.7015788_7015789insAGCCG , CM000680.1:g.7015788_7015789insAGCCG	GRCh37
NC_000018.8:g.7005788_7005789insAGCCG	NCBI36
NG_034251.1:g.107026_107027insGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3059_3060insGGCTC MANE Select	ENSP00000374309.3:p.Gln1021AlafsTer5
ENST00000389658.3:c.3059_3060insGGCTC	ENSP00000374309.3:p.Gln1021AlafsTer5
ENST00000579014.5:n.4074_4075insGGCTC
NM_005559.3:c.3059_3060insGGCTC	NP_005550.2:p.Gln1021AlafsTer5
XM_011525655.1:c.3059_3060insGGCTC	XP_011523957.1:p.Gln1021AlafsTer5
XM_011525656.1:c.1487_1488insGGCTC	XP_011523958.1:p.Gln497AlafsTer5
XM_011525657.1:c.3059_3060insGGCTC	XP_011523959.1:p.Gln1021AlafsTer5
XM_011525655.2:c.3059_3060insGGCTC	XP_011523957.1:p.Gln1021AlafsTer5
XM_011525656.2:c.1487_1488insGGCTC	XP_011523958.1:p.Gln497AlafsTer5
NM_005559.4:c.3059_3060insGGCTC MANE Select	NP_005550.2:p.Gln1021AlafsTer5