Canonical Allele Identifier: CA2550455292

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349694_129349695insTTTGGAC , CM000668.2:g.129349694_129349695insTTTGGAC	GRCh38
NC_000006.11:g.129670839_129670840insTTTGGAC , CM000668.1:g.129670839_129670840insTTTGGAC	GRCh37
NC_000006.10:g.129712532_129712533insTTTGGAC	NCBI36
NG_008678.1:g.471554_471555insTTTGGAC , LRG_409:g.471554_471555insTTTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4523+310_4523+311insTTTGGAC	ENSP00000481744.2:n.4523+310_4523+311insTTTGGAC
ENST00000618192.5:c.4787+310_4787+311insTTTGGAC	ENSP00000480802.2:n.4787+310_4787+311insTTTGGAC
ENST00000692206.1:n.172+310_172+311insTTTGGAC
ENST00000693425.1:n.49+310_49+311insTTTGGAC
ENST00000421865.3:c.4523+310_4523+311insTTTGGAC MANE Select	ENSP00000400365.2:n.4523+310_4523+311insTTTGGAC
ENST00000421865.2:c.4523+310_4523+311insTTTGGAC	ENSP00000400365.2:n.4523+310_4523+311insTTTGGAC
ENST00000617695.4:c.4523+310_4523+311insTTTGGAC	ENSP00000481744.1:n.4523+310_4523+311insTTTGGAC
ENST00000618192.4:c.4523+310_4523+311insTTTGGAC	ENSP00000480802.1:n.4523+310_4523+311insTTTGGAC
NM_000426.3:c.4523+310_4523+311insTTTGGAC , LRG_409t1:c.4523+310_4523+311insTTTGGAC	NP_000417.2:n.4523+310_4523+311insTTTGGAC
NM_001079823.1:c.4523+310_4523+311insTTTGGAC	NP_001073291.1:n.4523+310_4523+311insTTTGGAC
XM_005266981.2:c.4787+310_4787+311insTTTGGAC	XP_005267038.1:n.4787+310_4787+311insTTTGGAC
XM_005266982.2:c.4787+310_4787+311insTTTGGAC	XP_005267039.1:n.4787+310_4787+311insTTTGGAC
XM_011535820.1:c.4787+310_4787+311insTTTGGAC	XP_011534122.1:n.4787+310_4787+311insTTTGGAC
XM_005266981.3:c.4787+310_4787+311insTTTGGAC	XP_005267038.1:n.4787+310_4787+311insTTTGGAC
XM_005266982.3:c.4787+310_4787+311insTTTGGAC	XP_005267039.1:n.4787+310_4787+311insTTTGGAC
XM_011535820.2:c.4787+310_4787+311insTTTGGAC	XP_011534122.1:n.4787+310_4787+311insTTTGGAC
XM_017010851.2:c.4793+310_4793+311insTTTGGAC	XP_016866340.1:n.4793+310_4793+311insTTTGGAC
XM_017010852.1:c.2918+310_2918+311insTTTGGAC	XP_016866341.1:n.2918+310_2918+311insTTTGGAC
XM_017010853.1:c.4787+310_4787+311insTTTGGAC	XP_016866342.1:n.4787+310_4787+311insTTTGGAC
NM_000426.4:c.4523+310_4523+311insTTTGGAC MANE Select	NP_000417.3:n.4523+310_4523+311insTTTGGAC
NM_001079823.2:c.4523+310_4523+311insTTTGGAC	NP_001073291.2:n.4523+310_4523+311insTTTGGAC