Canonical Allele Identifier: CA2576450398

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015812_7015813del , CM000680.2:g.7015812_7015813del	GRCh38
NC_000018.9:g.7015811_7015812del , CM000680.1:g.7015811_7015812del	GRCh37
NC_000018.8:g.7005811_7005812del	NCBI36
NG_034251.1:g.107005_107006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3038_3039del MANE Select	ENSP00000374309.3:p.Glu1013ValfsTer13
ENST00000389658.3:c.3038_3039del	ENSP00000374309.3:p.Glu1013ValfsTer13
ENST00000579014.5:n.4053_4054del
NM_005559.3:c.3038_3039del	NP_005550.2:p.Glu1013ValfsTer13
XM_011525655.1:c.3038_3039del	XP_011523957.1:p.Glu1013ValfsTer13
XM_011525656.1:c.1466_1467del	XP_011523958.1:p.Glu489ValfsTer13
XM_011525657.1:c.3038_3039del	XP_011523959.1:p.Glu1013ValfsTer13
XM_011525655.2:c.3038_3039del	XP_011523957.1:p.Glu1013ValfsTer13
XM_011525656.2:c.1466_1467del	XP_011523958.1:p.Glu489ValfsTer13
NM_005559.4:c.3038_3039del MANE Select	NP_005550.2:p.Glu1013ValfsTer13