Canonical Allele Identifier: CA2576450946
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042086_7042088del , CM000680.2:g.7042086_7042088del GRCh38
NC_000018.9:g.7042085_7042087del , CM000680.1:g.7042085_7042087del GRCh37
NC_000018.8:g.7032085_7032087del NCBI36
NG_034251.1:g.80727_80729del

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+57_1261+59del MANE Select ENSP00000374309.3:n.1261+57_1261+59del
ENST00000389658.3:c.1261+57_1261+59del ENSP00000374309.3:n.1261+57_1261+59del
ENST00000579014.5:n.2276+57_2276+59del
NM_005559.3:c.1261+57_1261+59del NP_005550.2:n.1261+57_1261+59del
XM_011525655.1:c.1261+57_1261+59del XP_011523957.1:n.1261+57_1261+59del
XM_011525657.1:c.1261+57_1261+59del XP_011523959.1:n.1261+57_1261+59del
XM_011525655.2:c.1261+57_1261+59del XP_011523957.1:n.1261+57_1261+59del
NM_005559.4:c.1261+57_1261+59del MANE Select NP_005550.2:n.1261+57_1261+59del