Canonical Allele Identifier: CA2680306808

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129190405-CGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129190409_129190411del , CM000668.2:g.129190409_129190411del	GRCh38
NC_000006.11:g.129511554_129511556del , CM000668.1:g.129511554_129511556del	GRCh37
NC_000006.10:g.129553247_129553249del	NCBI36
NG_008678.1:g.312269_312271del , LRG_409:g.312269_312271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1608+64_1608+66del	ENSP00000481744.2:n.1608+64_1608+66del
ENST00000618192.5:c.1608+64_1608+66del	ENSP00000480802.2:n.1608+64_1608+66del
ENST00000686599.1:n.1713+64_1713+66del
ENST00000690881.1:n.1071+64_1071+66del
ENST00000421865.3:c.1608+64_1608+66del MANE Select	ENSP00000400365.2:n.1608+64_1608+66del
ENST00000421865.2:c.1608+64_1608+66del	ENSP00000400365.2:n.1608+64_1608+66del
ENST00000617695.4:c.1608+64_1608+66del	ENSP00000481744.1:n.1608+64_1608+66del
ENST00000618192.4:c.1608+64_1608+66del	ENSP00000480802.1:n.1608+64_1608+66del
NM_000426.3:c.1608+64_1608+66del , LRG_409t1:c.1608+64_1608+66del	NP_000417.2:n.1608+64_1608+66del
NM_001079823.1:c.1608+64_1608+66del	NP_001073291.1:n.1608+64_1608+66del
XM_005266981.2:c.1608+64_1608+66del	XP_005267038.1:n.1608+64_1608+66del
XM_005266982.2:c.1608+64_1608+66del	XP_005267039.1:n.1608+64_1608+66del
XM_011535820.1:c.1608+64_1608+66del	XP_011534122.1:n.1608+64_1608+66del
XM_005266981.3:c.1608+64_1608+66del	XP_005267038.1:n.1608+64_1608+66del
XM_005266982.3:c.1608+64_1608+66del	XP_005267039.1:n.1608+64_1608+66del
XM_011535820.2:c.1608+64_1608+66del	XP_011534122.1:n.1608+64_1608+66del
XM_017010851.2:c.1614+64_1614+66del	XP_016866340.1:n.1614+64_1614+66del
XM_017010853.1:c.1608+64_1608+66del	XP_016866342.1:n.1608+64_1608+66del
NM_000426.4:c.1608+64_1608+66del MANE Select	NP_000417.3:n.1608+64_1608+66del
NM_001079823.2:c.1608+64_1608+66del	NP_001073291.2:n.1608+64_1608+66del