Canonical Allele Identifier: CA2680304661

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129250348-T-TTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250348_129250349insTTTTA , CM000668.2:g.129250348_129250349insTTTTA	GRCh38
NC_000006.11:g.129571493_129571494insTTTTA , CM000668.1:g.129571493_129571494insTTTTA	GRCh37
NC_000006.10:g.129613186_129613187insTTTTA	NCBI36
NG_008678.1:g.372208_372209insTTTTA , LRG_409:g.372208_372209insTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1884+135_1884+136insTTTTA	ENSP00000481744.2:n.1884+135_1884+136insTTTTA
ENST00000618192.5:c.1884+135_1884+136insTTTTA	ENSP00000480802.2:n.1884+135_1884+136insTTTTA
ENST00000421865.3:c.1884+135_1884+136insTTTTA MANE Select	ENSP00000400365.2:n.1884+135_1884+136insTTTTA
ENST00000421865.2:c.1884+135_1884+136insTTTTA	ENSP00000400365.2:n.1884+135_1884+136insTTTTA
ENST00000617695.4:c.1884+135_1884+136insTTTTA	ENSP00000481744.1:n.1884+135_1884+136insTTTTA
ENST00000618192.4:c.1884+135_1884+136insTTTTA	ENSP00000480802.1:n.1884+135_1884+136insTTTTA
NM_000426.3:c.1884+135_1884+136insTTTTA , LRG_409t1:c.1884+135_1884+136insTTTTA	NP_000417.2:n.1884+135_1884+136insTTTTA
NM_001079823.1:c.1884+135_1884+136insTTTTA	NP_001073291.1:n.1884+135_1884+136insTTTTA
XM_005266981.2:c.1884+135_1884+136insTTTTA	XP_005267038.1:n.1884+135_1884+136insTTTTA
XM_005266982.2:c.1884+135_1884+136insTTTTA	XP_005267039.1:n.1884+135_1884+136insTTTTA
XM_011535820.1:c.1884+135_1884+136insTTTTA	XP_011534122.1:n.1884+135_1884+136insTTTTA
XM_005266981.3:c.1884+135_1884+136insTTTTA	XP_005267038.1:n.1884+135_1884+136insTTTTA
XM_005266982.3:c.1884+135_1884+136insTTTTA	XP_005267039.1:n.1884+135_1884+136insTTTTA
XM_011535820.2:c.1884+135_1884+136insTTTTA	XP_011534122.1:n.1884+135_1884+136insTTTTA
XM_017010851.2:c.1890+135_1890+136insTTTTA	XP_016866340.1:n.1890+135_1890+136insTTTTA
XM_017010852.1:c.15+135_15+136insTTTTA	XP_016866341.1:n.15+135_15+136insTTTTA
XM_017010853.1:c.1884+135_1884+136insTTTTA	XP_016866342.1:n.1884+135_1884+136insTTTTA
NM_000426.4:c.1884+135_1884+136insTTTTA MANE Select	NP_000417.3:n.1884+135_1884+136insTTTTA
NM_001079823.2:c.1884+135_1884+136insTTTTA	NP_001073291.2:n.1884+135_1884+136insTTTTA