Canonical Allele Identifier: CA8916182

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 1093160
• ClinVar RCV Id: RCV001413242
• dbSNP Id: rs764783100
• ExAC: 18:21479035 A / AGG
• gnomAD v2: 18-21479035-A-AGG
• gnomAD v3: 18-23899071-A-AGG
• gnomAD v4: 18-23899071-A-AGG
• MyVariant Identifiers: chr18:g.21479035_21479036insGG (hg19) ; chr18:g.23899071_23899072insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23899071_23899072insGG , CM000680.2:g.23899071_23899072insGG	GRCh38
NC_000018.9:g.21479035_21479036insGG , CM000680.1:g.21479035_21479036insGG	GRCh37
NC_000018.8:g.19733033_19733034insGG	NCBI36
NG_007853.2:g.214474_214475insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1009+6_1009+7insGG MANE Plus Clinical	ENSP00000269217.5:n.1009+6_1009+7insGG
ENST00000313654.14:c.5836+6_5836+7insGG MANE Select	ENSP00000324532.8:n.5836+6_5836+7insGG
ENST00000649721.1:c.2728+6_2728+7insGG	ENSP00000497885.1:n.2728+6_2728+7insGG
ENST00000269217.10:c.1009+6_1009+7insGG	ENSP00000269217.5:n.1009+6_1009+7insGG
ENST00000313654.13:c.5836+6_5836+7insGG	ENSP00000324532.8:n.5836+6_5836+7insGG
ENST00000399516.7:c.5836+6_5836+7insGG	ENSP00000382432.2:n.5836+6_5836+7insGG
ENST00000586709.1:n.224+6_224+7insGG
ENST00000586751.5:c.614+6_614+7insGG
ENST00000587184.5:c.1009+6_1009+7insGG	ENSP00000466557.1:n.1009+6_1009+7insGG
ENST00000588770.5:n.414+6_414+7insGG
NM_000227.4:c.1009+6_1009+7insGG	NP_000218.3:n.1009+6_1009+7insGG
NM_001127717.2:c.5836+6_5836+7insGG	NP_001121189.2:n.5836+6_5836+7insGG
NM_001127718.2:c.1009+6_1009+7insGG	NP_001121190.2:n.1009+6_1009+7insGG
NM_198129.2:c.5836+6_5836+7insGG	NP_937762.2:n.5836+6_5836+7insGG
XM_011525978.1:c.5863+6_5863+7insGG	XP_011524280.1:n.5863+6_5863+7insGG
XM_011525979.1:c.5854+6_5854+7insGG	XP_011524281.1:n.5854+6_5854+7insGG
XM_011525980.1:c.5845+6_5845+7insGG	XP_011524282.1:n.5845+6_5845+7insGG
XM_011525981.1:c.5731+6_5731+7insGG	XP_011524283.1:n.5731+6_5731+7insGG
XM_011525982.1:c.5863+6_5863+7insGG	XP_011524284.1:n.5863+6_5863+7insGG
XM_011525978.2:c.5863+6_5863+7insGG	XP_011524280.1:n.5863+6_5863+7insGG
XM_011525979.2:c.5854+6_5854+7insGG	XP_011524281.1:n.5854+6_5854+7insGG
XM_011525980.2:c.5845+6_5845+7insGG	XP_011524282.1:n.5845+6_5845+7insGG
XM_011525981.2:c.5731+6_5731+7insGG	XP_011524283.1:n.5731+6_5731+7insGG
XM_011525982.2:c.5863+6_5863+7insGG	XP_011524284.1:n.5863+6_5863+7insGG
XM_017025743.1:c.3715+6_3715+7insGG	XP_016881232.1:n.3715+6_3715+7insGG
XM_017025744.1:c.1405+6_1405+7insGG	XP_016881233.1:n.1405+6_1405+7insGG
XR_001753199.1:n.6104+6_6104+7insGG
NM_000227.5:c.1009+6_1009+7insGG	NP_000218.3:n.1009+6_1009+7insGG
NM_001127717.3:c.5836+6_5836+7insGG	NP_001121189.2:n.5836+6_5836+7insGG
NM_001127718.3:c.1009+6_1009+7insGG	NP_001121190.2:n.1009+6_1009+7insGG
NM_198129.3:c.5836+6_5836+7insGG	NP_937762.2:n.5836+6_5836+7insGG
NM_000227.6:c.1009+6_1009+7insGG MANE Plus Clinical	NP_000218.3:n.1009+6_1009+7insGG
NM_001127717.4:c.5836+6_5836+7insGG	NP_001121189.2:n.5836+6_5836+7insGG
NM_001127718.4:c.1009+6_1009+7insGG	NP_001121190.2:n.1009+6_1009+7insGG
NM_198129.4:c.5836+6_5836+7insGG MANE Select	NP_937762.2:n.5836+6_5836+7insGG