Canonical Allele Identifier: CA2578737000

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129297865-GGTCTGTAAATATGACTTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297869_129297887del , CM000668.2:g.129297869_129297887del	GRCh38
NC_000006.11:g.129619014_129619032del , CM000668.1:g.129619014_129619032del	GRCh37
NC_000006.10:g.129660707_129660725del	NCBI36
NG_008678.1:g.419729_419747del , LRG_409:g.419729_419747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3037+4_3037+22del	ENSP00000481744.2:n.3037+4_3037+22del
ENST00000618192.5:c.3301+4_3301+22del	ENSP00000480802.2:n.3301+4_3301+22del
ENST00000421865.3:c.3037+4_3037+22del MANE Select	ENSP00000400365.2:n.3037+4_3037+22del
ENST00000421865.2:c.3037+4_3037+22del	ENSP00000400365.2:n.3037+4_3037+22del
ENST00000617695.4:c.3037+4_3037+22del	ENSP00000481744.1:n.3037+4_3037+22del
ENST00000618192.4:c.3037+4_3037+22del	ENSP00000480802.1:n.3037+4_3037+22del
NM_000426.3:c.3037+4_3037+22del , LRG_409t1:c.3037+4_3037+22del	NP_000417.2:n.3037+4_3037+22del
NM_001079823.1:c.3037+4_3037+22del	NP_001073291.1:n.3037+4_3037+22del
XM_005266981.2:c.3301+4_3301+22del	XP_005267038.1:n.3301+4_3301+22del
XM_005266982.2:c.3301+4_3301+22del	XP_005267039.1:n.3301+4_3301+22del
XM_011535820.1:c.3301+4_3301+22del	XP_011534122.1:n.3301+4_3301+22del
XM_005266981.3:c.3301+4_3301+22del	XP_005267038.1:n.3301+4_3301+22del
XM_005266982.3:c.3301+4_3301+22del	XP_005267039.1:n.3301+4_3301+22del
XM_011535820.2:c.3301+4_3301+22del	XP_011534122.1:n.3301+4_3301+22del
XM_017010851.2:c.3307+4_3307+22del	XP_016866340.1:n.3307+4_3307+22del
XM_017010852.1:c.1432+4_1432+22del	XP_016866341.1:n.1432+4_1432+22del
XM_017010853.1:c.3301+4_3301+22del	XP_016866342.1:n.3301+4_3301+22del
NM_000426.4:c.3037+4_3037+22del MANE Select	NP_000417.3:n.3037+4_3037+22del
NM_001079823.2:c.3037+4_3037+22del	NP_001073291.2:n.3037+4_3037+22del