Canonical Allele Identifier: CA2578737112

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315575_129315581del , CM000668.2:g.129315575_129315581del	GRCh38
NC_000006.11:g.129636720_129636726del , CM000668.1:g.129636720_129636726del	GRCh37
NC_000006.10:g.129678413_129678419del	NCBI36
NG_008678.1:g.437435_437441del , LRG_409:g.437435_437441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3655_3661del	ENSP00000481744.2:p.Ala1219TrpfsTer3
ENST00000618192.5:c.3919_3925del	ENSP00000480802.2:p.Ala1307TrpfsTer3
ENST00000421865.3:c.3655_3661del MANE Select	ENSP00000400365.2:p.Ala1219TrpfsTer3
ENST00000421865.2:c.3655_3661del	ENSP00000400365.2:p.Ala1219TrpfsTer3
ENST00000617695.4:c.3655_3661del	ENSP00000481744.1:p.Ala1219TrpfsTer3
ENST00000618192.4:c.3655_3661del	ENSP00000480802.1:p.Ala1219TrpfsTer3
NM_000426.3:c.3655_3661del , LRG_409t1:c.3655_3661del	NP_000417.2:p.Ala1219TrpfsTer3
NM_001079823.1:c.3655_3661del	NP_001073291.1:p.Ala1219TrpfsTer3
XM_005266981.2:c.3919_3925del	XP_005267038.1:p.Ala1307TrpfsTer3
XM_005266982.2:c.3919_3925del	XP_005267039.1:p.Ala1307TrpfsTer3
XM_011535820.1:c.3919_3925del	XP_011534122.1:p.Ala1307TrpfsTer3
XM_005266981.3:c.3919_3925del	XP_005267038.1:p.Ala1307TrpfsTer3
XM_005266982.3:c.3919_3925del	XP_005267039.1:p.Ala1307TrpfsTer3
XM_011535820.2:c.3919_3925del	XP_011534122.1:p.Ala1307TrpfsTer3
XM_017010851.2:c.3925_3931del	XP_016866340.1:p.Ala1309TrpfsTer3
XM_017010852.1:c.2050_2056del	XP_016866341.1:p.Ala684TrpfsTer3
XM_017010853.1:c.3919_3925del	XP_016866342.1:p.Ala1307TrpfsTer3
NM_000426.4:c.3655_3661del MANE Select	NP_000417.3:p.Ala1219TrpfsTer3
NM_001079823.2:c.3655_3661del	NP_001073291.2:p.Ala1219TrpfsTer3