Canonical Allele Identifier: CA1093223198

Gene: LAMA4

Linked Data

• dbSNP Id: rs1780128463
• gnomAD v3: 6-112147906-G-GA
• gnomAD v4: 6-112147906-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112147912dup , CM000668.2:g.112147912dup	GRCh38
NC_000006.11:g.112469114dup , CM000668.1:g.112469114dup	GRCh37
NC_000006.10:g.112575807dup	NCBI36
NG_008209.1:g.111720dup , LRG_433:g.111720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.2353+250dup MANE Select	ENSP00000230538.7:n.2353+250dup
ENST00000389463.9:c.2332+250dup	ENSP00000374114.4:n.2332+250dup
ENST00000651860.1:c.223+250dup	ENSP00000498842.1:n.223+250dup
ENST00000230538.11:c.2353+250dup	ENSP00000230538.7:n.2353+250dup
ENST00000389463.8:c.2332+250dup	ENSP00000374114.4:n.2332+250dup
ENST00000424408.6:c.2332+250dup	ENSP00000416470.2:n.2332+250dup
ENST00000522006.5:c.2332+250dup	ENSP00000429488.1:n.2332+250dup
ENST00000523765.1:c.765+250dup
NM_001105206.2:c.2353+250dup	NP_001098676.2:n.2353+250dup
NM_001105207.2:c.2332+250dup	NP_001098677.2:n.2332+250dup
NM_002290.4:c.2332+250dup	NP_002281.3:n.2332+250dup
XM_005266983.3:c.2353+250dup	XP_005267040.2:n.2353+250dup
XM_005266984.3:c.2353+250dup	XP_005267041.2:n.2353+250dup
XM_011535821.1:c.2353+250dup	XP_011534123.1:n.2353+250dup
XM_005266983.4:c.2353+250dup	XP_005267040.2:n.2353+250dup
XM_005266984.4:c.2353+250dup	XP_005267041.2:n.2353+250dup
XM_017010854.2:c.2332+250dup	XP_016866343.1:n.2332+250dup
XR_001743406.2:n.2624+250dup
XR_001743407.2:n.2603+250dup
XR_001744299.1:n.429-7408dup
NM_001105206.3:c.2353+250dup MANE Select	NP_001098676.2:n.2353+250dup
NM_001105207.3:c.2332+250dup	NP_001098677.2:n.2332+250dup
NM_002290.5:c.2332+250dup	NP_002281.3:n.2332+250dup