Canonical Allele Identifier: CA658798995

Gene: LAMA1

Linked Data

• ClinVar Variation Id: 517432
• ClinVar RCV Id: RCV000613599
• dbSNP Id: rs1555643185
• MyVariant Identifiers: chr18:g.6956661_6956667dup (hg19) ; chr18:g.6956662_6956668dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.6956663_6956669dup , CM000680.2:g.6956663_6956669dup	GRCh38
NC_000018.9:g.6956662_6956668dup , CM000680.1:g.6956662_6956668dup	GRCh37
NC_000018.8:g.6946662_6946668dup	NCBI36
NG_034251.1:g.166147_166153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.8062_8068dup MANE Select	ENSP00000374309.3:p.Leu2690GlnfsTer?
ENST00000638611.1:c.420_424dup
ENST00000389658.3:c.8062_8068dup	ENSP00000374309.3:p.Leu2690GlnfsTer?
ENST00000488064.5:n.1469_1475dup
ENST00000488089.1:n.1639_1645dup
ENST00000579014.5:n.9077_9083dup
NM_005559.3:c.8062_8068dup	NP_005550.2:p.Leu2690GlnfsTer?
NR_126040.1:n.1539_1545dup
XM_011525655.1:c.8062_8068dup	XP_011523957.1:p.Leu2690GlnfsTer?
XM_011525656.1:c.6490_6496dup	XP_011523958.1:p.Leu2166GlnfsTer?
XM_011525655.2:c.8062_8068dup	XP_011523957.1:p.Leu2690GlnfsTer?
XM_011525656.2:c.6490_6496dup	XP_011523958.1:p.Leu2166GlnfsTer?
NM_005559.4:c.8062_8068dup MANE Select	NP_005550.2:p.Leu2690GlnfsTer?