Canonical Allele Identifier: CA8916564

Gene: LAMA3

Linked Data

• dbSNP Id: rs757503349
• ExAC: 18:21489281 C / CA
• gnomAD v2: 18-21489281-C-CA
• gnomAD v3: 18-23909317-C-CA
• gnomAD v4: 18-23909317-C-CA
• MyVariant Identifiers: chr18:g.21489281_21489282insA (hg19) ; chr18:g.23909317_23909318insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23909318dup , CM000680.2:g.23909318dup	GRCh38
NC_000018.9:g.21489282dup , CM000680.1:g.21489282dup	GRCh37
NC_000018.8:g.19743280dup	NCBI36
NG_007853.2:g.224721dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2331+23dup MANE Plus Clinical	ENSP00000269217.5:n.2331+23dup
ENST00000313654.14:c.7158+23dup MANE Select	ENSP00000324532.8:n.7158+23dup
ENST00000649721.1:c.3753+23dup	ENSP00000497885.1:n.3753+23dup
ENST00000269217.10:c.2331+23dup	ENSP00000269217.5:n.2331+23dup
ENST00000313654.13:c.7158+23dup	ENSP00000324532.8:n.7158+23dup
ENST00000399516.7:c.6990+23dup	ENSP00000382432.2:n.6990+23dup
ENST00000586751.5:c.1936+23dup
ENST00000587184.5:c.2163+23dup	ENSP00000466557.1:n.2163+23dup
ENST00000588770.5:n.1736+23dup
NM_000227.4:c.2331+23dup	NP_000218.3:n.2331+23dup
NM_001127717.2:c.6990+23dup	NP_001121189.2:n.6990+23dup
NM_001127718.2:c.2163+23dup	NP_001121190.2:n.2163+23dup
NM_198129.2:c.7158+23dup	NP_937762.2:n.7158+23dup
XM_011525978.1:c.7185+23dup	XP_011524280.1:n.7185+23dup
XM_011525979.1:c.7176+23dup	XP_011524281.1:n.7176+23dup
XM_011525980.1:c.7167+23dup	XP_011524282.1:n.7167+23dup
XM_011525981.1:c.7053+23dup	XP_011524283.1:n.7053+23dup
XM_011525982.1:c.6888+23dup	XP_011524284.1:n.6888+23dup
XM_011525978.2:c.7185+23dup	XP_011524280.1:n.7185+23dup
XM_011525979.2:c.7176+23dup	XP_011524281.1:n.7176+23dup
XM_011525980.2:c.7167+23dup	XP_011524282.1:n.7167+23dup
XM_011525981.2:c.7053+23dup	XP_011524283.1:n.7053+23dup
XM_011525982.2:c.6888+23dup	XP_011524284.1:n.6888+23dup
XM_017025743.1:c.5037+23dup	XP_016881232.1:n.5037+23dup
XM_017025744.1:c.2727+23dup	XP_016881233.1:n.2727+23dup
XR_001753199.1:n.7426+23dup
NM_000227.5:c.2331+23dup	NP_000218.3:n.2331+23dup
NM_001127717.3:c.6990+23dup	NP_001121189.2:n.6990+23dup
NM_001127718.3:c.2163+23dup	NP_001121190.2:n.2163+23dup
NM_198129.3:c.7158+23dup	NP_937762.2:n.7158+23dup
NM_000227.6:c.2331+23dup MANE Plus Clinical	NP_000218.3:n.2331+23dup
NM_001127717.4:c.6990+23dup	NP_001121189.2:n.6990+23dup
NM_001127718.4:c.2163+23dup	NP_001121190.2:n.2163+23dup
NM_198129.4:c.7158+23dup MANE Select	NP_937762.2:n.7158+23dup