Canonical Allele Identifier: CA2810869197
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015634_7015645dup , CM000680.2:g.7015634_7015645dup GRCh38
NC_000018.9:g.7015633_7015644dup , CM000680.1:g.7015633_7015644dup GRCh37
NC_000018.8:g.7005633_7005644dup NCBI36
NG_034251.1:g.107171_107182dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+78_3126+89dup MANE Select ENSP00000374309.3:n.3126+78_3126+89dup
ENST00000389658.3:c.3126+78_3126+89dup ENSP00000374309.3:n.3126+78_3126+89dup
ENST00000579014.5:n.4141+78_4141+89dup
NM_005559.3:c.3126+78_3126+89dup NP_005550.2:n.3126+78_3126+89dup
XM_011525655.1:c.3126+78_3126+89dup XP_011523957.1:n.3126+78_3126+89dup
XM_011525656.1:c.1554+78_1554+89dup XP_011523958.1:n.1554+78_1554+89dup
XM_011525657.1:c.3126+78_3126+89dup XP_011523959.1:n.3126+78_3126+89dup
XM_011525655.2:c.3126+78_3126+89dup XP_011523957.1:n.3126+78_3126+89dup
XM_011525656.2:c.1554+78_1554+89dup XP_011523958.1:n.1554+78_1554+89dup
NM_005559.4:c.3126+78_3126+89dup MANE Select NP_005550.2:n.3126+78_3126+89dup