Canonical Allele Identifier: CA818846125

Gene: LAMA2

Linked Data

• dbSNP Id: rs1439507603
• gnomAD v4: 6-129298015-AAAT-A
• MyVariant Identifiers: chr6:g.129619161_129619163del (hg19) ; chr6:g.129298016_129298018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129298016_129298018del , CM000668.2:g.129298016_129298018del	GRCh38
NC_000006.11:g.129619161_129619163del , CM000668.1:g.129619161_129619163del	GRCh37
NC_000006.10:g.129660854_129660856del	NCBI36
NG_008678.1:g.419876_419878del , LRG_409:g.419876_419878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3037+151_3037+153del	ENSP00000481744.2:n.3037+151_3037+153del
ENST00000618192.5:c.3301+151_3301+153del	ENSP00000480802.2:n.3301+151_3301+153del
ENST00000421865.3:c.3037+151_3037+153del MANE Select	ENSP00000400365.2:n.3037+151_3037+153del
ENST00000421865.2:c.3037+151_3037+153del	ENSP00000400365.2:n.3037+151_3037+153del
ENST00000617695.4:c.3037+151_3037+153del	ENSP00000481744.1:n.3037+151_3037+153del
ENST00000618192.4:c.3037+151_3037+153del	ENSP00000480802.1:n.3037+151_3037+153del
NM_000426.3:c.3037+151_3037+153del , LRG_409t1:c.3037+151_3037+153del	NP_000417.2:n.3037+151_3037+153del
NM_001079823.1:c.3037+151_3037+153del	NP_001073291.1:n.3037+151_3037+153del
XM_005266981.2:c.3301+151_3301+153del	XP_005267038.1:n.3301+151_3301+153del
XM_005266982.2:c.3301+151_3301+153del	XP_005267039.1:n.3301+151_3301+153del
XM_011535820.1:c.3301+151_3301+153del	XP_011534122.1:n.3301+151_3301+153del
XM_005266981.3:c.3301+151_3301+153del	XP_005267038.1:n.3301+151_3301+153del
XM_005266982.3:c.3301+151_3301+153del	XP_005267039.1:n.3301+151_3301+153del
XM_011535820.2:c.3301+151_3301+153del	XP_011534122.1:n.3301+151_3301+153del
XM_017010851.2:c.3307+151_3307+153del	XP_016866340.1:n.3307+151_3307+153del
XM_017010852.1:c.1432+151_1432+153del	XP_016866341.1:n.1432+151_1432+153del
XM_017010853.1:c.3301+151_3301+153del	XP_016866342.1:n.3301+151_3301+153del
NM_000426.4:c.3037+151_3037+153del MANE Select	NP_000417.3:n.3037+151_3037+153del
NM_001079823.2:c.3037+151_3037+153del	NP_001073291.2:n.3037+151_3037+153del