Canonical Allele Identifier: CA2680313537

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129297986-A-AGACATTACTCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297986_129297987insGACATTACTCATT , CM000668.2:g.129297986_129297987insGACATTACTCATT	GRCh38
NC_000006.11:g.129619131_129619132insGACATTACTCATT , CM000668.1:g.129619131_129619132insGACATTACTCATT	GRCh37
NC_000006.10:g.129660824_129660825insGACATTACTCATT	NCBI36
NG_008678.1:g.419846_419847insGACATTACTCATT , LRG_409:g.419846_419847insGACATTACTCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3037+121_3037+122insGACATTACTCATT	ENSP00000481744.2:n.3037+121_3037+122insGACATTACTCATT
ENST00000618192.5:c.3301+121_3301+122insGACATTACTCATT	ENSP00000480802.2:n.3301+121_3301+122insGACATTACTCATT
ENST00000421865.3:c.3037+121_3037+122insGACATTACTCATT MANE Select	ENSP00000400365.2:n.3037+121_3037+122insGACATTACTCATT
ENST00000421865.2:c.3037+121_3037+122insGACATTACTCATT	ENSP00000400365.2:n.3037+121_3037+122insGACATTACTCATT
ENST00000617695.4:c.3037+121_3037+122insGACATTACTCATT	ENSP00000481744.1:n.3037+121_3037+122insGACATTACTCATT
ENST00000618192.4:c.3037+121_3037+122insGACATTACTCATT	ENSP00000480802.1:n.3037+121_3037+122insGACATTACTCATT
NM_000426.3:c.3037+121_3037+122insGACATTACTCATT , LRG_409t1:c.3037+121_3037+122insGACATTACTCATT	NP_000417.2:n.3037+121_3037+122insGACATTACTCATT
NM_001079823.1:c.3037+121_3037+122insGACATTACTCATT	NP_001073291.1:n.3037+121_3037+122insGACATTACTCATT
XM_005266981.2:c.3301+121_3301+122insGACATTACTCATT	XP_005267038.1:n.3301+121_3301+122insGACATTACTCATT
XM_005266982.2:c.3301+121_3301+122insGACATTACTCATT	XP_005267039.1:n.3301+121_3301+122insGACATTACTCATT
XM_011535820.1:c.3301+121_3301+122insGACATTACTCATT	XP_011534122.1:n.3301+121_3301+122insGACATTACTCATT
XM_005266981.3:c.3301+121_3301+122insGACATTACTCATT	XP_005267038.1:n.3301+121_3301+122insGACATTACTCATT
XM_005266982.3:c.3301+121_3301+122insGACATTACTCATT	XP_005267039.1:n.3301+121_3301+122insGACATTACTCATT
XM_011535820.2:c.3301+121_3301+122insGACATTACTCATT	XP_011534122.1:n.3301+121_3301+122insGACATTACTCATT
XM_017010851.2:c.3307+121_3307+122insGACATTACTCATT	XP_016866340.1:n.3307+121_3307+122insGACATTACTCATT
XM_017010852.1:c.1432+121_1432+122insGACATTACTCATT	XP_016866341.1:n.1432+121_1432+122insGACATTACTCATT
XM_017010853.1:c.3301+121_3301+122insGACATTACTCATT	XP_016866342.1:n.3301+121_3301+122insGACATTACTCATT
NM_000426.4:c.3037+121_3037+122insGACATTACTCATT MANE Select	NP_000417.3:n.3037+121_3037+122insGACATTACTCATT
NM_001079823.2:c.3037+121_3037+122insGACATTACTCATT	NP_001073291.2:n.3037+121_3037+122insGACATTACTCATT