Canonical Allele Identifier: CA2640920271

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7015775-A-AGACCCAAACCCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015775_7015776insGACCCAAACCCCAG , CM000680.2:g.7015775_7015776insGACCCAAACCCCAG	GRCh38
NC_000018.9:g.7015774_7015775insGACCCAAACCCCAG , CM000680.1:g.7015774_7015775insGACCCAAACCCCAG	GRCh37
NC_000018.8:g.7005774_7005775insGACCCAAACCCCAG	NCBI36
NG_034251.1:g.107039_107040insCTGGGGTTTGGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3072_3073insCTGGGGTTTGGGTC MANE Select	ENSP00000374309.3:p.Cys1025LeufsTer?
ENST00000389658.3:c.3072_3073insCTGGGGTTTGGGTC	ENSP00000374309.3:p.Cys1025LeufsTer?
ENST00000579014.5:n.4087_4088insCTGGGGTTTGGGTC
NM_005559.3:c.3072_3073insCTGGGGTTTGGGTC	NP_005550.2:p.Cys1025LeufsTer?
XM_011525655.1:c.3072_3073insCTGGGGTTTGGGTC	XP_011523957.1:p.Cys1025LeufsTer?
XM_011525656.1:c.1500_1501insCTGGGGTTTGGGTC	XP_011523958.1:p.Cys501LeufsTer?
XM_011525657.1:c.3072_3073insCTGGGGTTTGGGTC	XP_011523959.1:p.Cys1025LeufsTer?
XM_011525655.2:c.3072_3073insCTGGGGTTTGGGTC	XP_011523957.1:p.Cys1025LeufsTer?
XM_011525656.2:c.1500_1501insCTGGGGTTTGGGTC	XP_011523958.1:p.Cys501LeufsTer?
NM_005559.4:c.3072_3073insCTGGGGTTTGGGTC MANE Select	NP_005550.2:p.Cys1025LeufsTer?