Canonical Allele Identifier: CA2640920262

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7015772-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015773del , CM000680.2:g.7015773del	GRCh38
NC_000018.9:g.7015772del , CM000680.1:g.7015772del	GRCh37
NC_000018.8:g.7005772del	NCBI36
NG_034251.1:g.107042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3075del MANE Select	ENSP00000374309.3:p.Cys1025TrpfsTer?
ENST00000389658.3:c.3075del	ENSP00000374309.3:p.Cys1025TrpfsTer?
ENST00000579014.5:n.4090del
NM_005559.3:c.3075del	NP_005550.2:p.Cys1025TrpfsTer?
XM_011525655.1:c.3075del	XP_011523957.1:p.Cys1025TrpfsTer?
XM_011525656.1:c.1503del	XP_011523958.1:p.Cys501TrpfsTer?
XM_011525657.1:c.3075del	XP_011523959.1:p.Cys1025TrpfsTer?
XM_011525655.2:c.3075del	XP_011523957.1:p.Cys1025TrpfsTer?
XM_011525656.2:c.1503del	XP_011523958.1:p.Cys501TrpfsTer?
NM_005559.4:c.3075del MANE Select	NP_005550.2:p.Cys1025TrpfsTer?