Canonical Allele Identifier: CA295754339
Community Standard Title: NM_005559.4(LAMA1):c.2274+78dup
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7031996dup , CM000680.2:g.7031996dup GRCh38
NC_000018.9:g.7031995dup , CM000680.1:g.7031995dup GRCh37
NC_000018.8:g.7021995dup NCBI36
NG_034251.1:g.90827dup

Transcript Alleles

HGVS Amino-acid Change
NM_005559.4:c.2274+78dup MANE Select NP_005550.2:n.2274+78dup
ENST00000389658.4:c.2274+78dup MANE Select ENSP00000374309.3:n.2274+78dup
NM_005559.3:c.2274+78dup NP_005550.2:n.2274+78dup
ENST00000389658.3:c.2274+78dup ENSP00000374309.3:n.2274+78dup
ENST00000579014.5:n.3289+78dup
XM_011525655.1:c.2274+78dup XP_011523957.1:n.2274+78dup
XM_011525655.2:c.2274+78dup XP_011523957.1:n.2274+78dup
XM_011525656.1:c.702+78dup XP_011523958.1:n.702+78dup
XM_011525656.2:c.702+78dup XP_011523958.1:n.702+78dup
XM_011525657.1:c.2274+78dup XP_011523959.1:n.2274+78dup