Canonical Allele Identifier: CA2580074904

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129252205_129252211del , CM000668.2:g.129252205_129252211del	GRCh38
NC_000006.11:g.129573350_129573356del , CM000668.1:g.129573350_129573356del	GRCh37
NC_000006.10:g.129615043_129615049del	NCBI36
NG_008678.1:g.374065_374071del , LRG_409:g.374065_374071del

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.2006_2012del MANE Select	NP_000417.3:p.Val669GlufsTer5
ENST00000421865.3:c.2006_2012del MANE Select	ENSP00000400365.2:p.Val669GlufsTer5
NM_000426.3:c.2006_2012del , LRG_409t1:c.2006_2012del	NP_000417.2:p.Val669GlufsTer5
NM_001079823.1:c.2006_2012del	NP_001073291.1:p.Val669GlufsTer5
NM_001079823.2:c.2006_2012del	NP_001073291.2:p.Val669GlufsTer5
ENST00000421865.2:c.2006_2012del	ENSP00000400365.2:p.Val669GlufsTer5
ENST00000617695.4:c.2006_2012del	ENSP00000481744.1:p.Val669GlufsTer5
ENST00000617695.5:c.2006_2012del	ENSP00000481744.2:p.Val669GlufsTer5
ENST00000618192.4:c.2006_2012del	ENSP00000480802.1:p.Val669GlufsTer5
ENST00000618192.5:c.2006_2012del	ENSP00000480802.2:p.Val669GlufsTer5
XM_005266981.2:c.2006_2012del	XP_005267038.1:p.Val669GlufsTer5
XM_005266981.3:c.2006_2012del	XP_005267038.1:p.Val669GlufsTer5
XM_005266982.2:c.2006_2012del	XP_005267039.1:p.Val669GlufsTer5
XM_005266982.3:c.2006_2012del	XP_005267039.1:p.Val669GlufsTer5
XM_011535820.1:c.2006_2012del	XP_011534122.1:p.Val669GlufsTer5
XM_011535820.2:c.2006_2012del	XP_011534122.1:p.Val669GlufsTer5
XM_017010851.2:c.2012_2018del	XP_016866340.1:p.Val671GlufsTer5
XM_017010852.1:c.137_143del	XP_016866341.1:p.Val46GlufsTer5
XM_017010853.1:c.2006_2012del	XP_016866342.1:p.Val669GlufsTer5