Canonical Allele Identifier: CA2773035443

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349508_129349509del , CM000668.2:g.129349508_129349509del	GRCh38
NC_000006.11:g.129670653_129670654del , CM000668.1:g.129670653_129670654del	GRCh37
NC_000006.10:g.129712346_129712347del	NCBI36
NG_008678.1:g.471368_471369del , LRG_409:g.471368_471369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4523+124_4523+125del	ENSP00000481744.2:n.4523+124_4523+125del
ENST00000618192.5:c.4787+124_4787+125del	ENSP00000480802.2:n.4787+124_4787+125del
ENST00000692206.1:n.172+124_172+125del
ENST00000693425.1:n.49+124_49+125del
ENST00000421865.3:c.4523+124_4523+125del MANE Select	ENSP00000400365.2:n.4523+124_4523+125del
ENST00000421865.2:c.4523+124_4523+125del	ENSP00000400365.2:n.4523+124_4523+125del
ENST00000617695.4:c.4523+124_4523+125del	ENSP00000481744.1:n.4523+124_4523+125del
ENST00000618192.4:c.4523+124_4523+125del	ENSP00000480802.1:n.4523+124_4523+125del
NM_000426.3:c.4523+124_4523+125del , LRG_409t1:c.4523+124_4523+125del	NP_000417.2:n.4523+124_4523+125del
NM_001079823.1:c.4523+124_4523+125del	NP_001073291.1:n.4523+124_4523+125del
XM_005266981.2:c.4787+124_4787+125del	XP_005267038.1:n.4787+124_4787+125del
XM_005266982.2:c.4787+124_4787+125del	XP_005267039.1:n.4787+124_4787+125del
XM_011535820.1:c.4787+124_4787+125del	XP_011534122.1:n.4787+124_4787+125del
XM_005266981.3:c.4787+124_4787+125del	XP_005267038.1:n.4787+124_4787+125del
XM_005266982.3:c.4787+124_4787+125del	XP_005267039.1:n.4787+124_4787+125del
XM_011535820.2:c.4787+124_4787+125del	XP_011534122.1:n.4787+124_4787+125del
XM_017010851.2:c.4793+124_4793+125del	XP_016866340.1:n.4793+124_4793+125del
XM_017010852.1:c.2918+124_2918+125del	XP_016866341.1:n.2918+124_2918+125del
XM_017010853.1:c.4787+124_4787+125del	XP_016866342.1:n.4787+124_4787+125del
NM_000426.4:c.4523+124_4523+125del MANE Select	NP_000417.3:n.4523+124_4523+125del
NM_001079823.2:c.4523+124_4523+125del	NP_001073291.2:n.4523+124_4523+125del