Canonical Allele Identifier: CA16041941

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 371359
• ClinVar RCV Id: RCV000410054
• dbSNP Id: rs1057517211
• MyVariant Identifiers: chr18:g.21519295dupG (hg19) ; chr18:g.23939331dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23939331dup , CM000680.2:g.23939331dup	GRCh38
NC_000018.9:g.21519295dup , CM000680.1:g.21519295dup	GRCh37
NC_000018.8:g.19773293dup	NCBI36
NG_007853.2:g.254734dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.4144dup MANE Plus Clinical	ENSP00000269217.5:p.Asp1382GlyfsTer?
ENST00000313654.14:c.8971dup MANE Select	ENSP00000324532.8:p.Asp2991GlyfsTer?
ENST00000649721.1:c.5566dup	ENSP00000497885.1:p.Asp1856GlyfsTer?
ENST00000269217.10:c.4144dup	ENSP00000269217.5:p.Asp1382GlyfsTer?
ENST00000313654.13:c.8971dup	ENSP00000324532.8:p.Asp2991GlyfsTer?
ENST00000399516.7:c.8803dup	ENSP00000382432.2:p.Asp2935GlyfsTer?
ENST00000587184.5:c.3976dup	ENSP00000466557.1:p.Asp1326GlyfsTer?
ENST00000588770.5:n.3549dup
NM_000227.4:c.4144dup	NP_000218.3:p.Asp1382GlyfsTer?
NM_001127717.2:c.8803dup	NP_001121189.2:p.Asp2935GlyfsTer?
NM_001127718.2:c.3976dup	NP_001121190.2:p.Asp1326GlyfsTer?
NM_198129.2:c.8971dup	NP_937762.2:p.Asp2991GlyfsTer?
XM_011525978.1:c.8998dup	XP_011524280.1:p.Asp3000GlyfsTer?
XM_011525979.1:c.8989dup	XP_011524281.1:p.Asp2997GlyfsTer?
XM_011525980.1:c.8980dup	XP_011524282.1:p.Asp2994GlyfsTer?
XM_011525981.1:c.8866dup	XP_011524283.1:p.Asp2956GlyfsTer?
XM_011525982.1:c.8701dup	XP_011524284.1:p.Asp2901GlyfsTer?
XM_011525978.2:c.8998dup	XP_011524280.1:p.Asp3000GlyfsTer?
XM_011525979.2:c.8989dup	XP_011524281.1:p.Asp2997GlyfsTer?
XM_011525980.2:c.8980dup	XP_011524282.1:p.Asp2994GlyfsTer?
XM_011525981.2:c.8866dup	XP_011524283.1:p.Asp2956GlyfsTer?
XM_011525982.2:c.8701dup	XP_011524284.1:p.Asp2901GlyfsTer?
XM_017025743.1:c.6850dup	XP_016881232.1:p.Asp2284GlyfsTer?
XM_017025744.1:c.4540dup	XP_016881233.1:p.Asp1514GlyfsTer?
XR_001753199.1:n.9239dup
NM_000227.5:c.4144dup	NP_000218.3:p.Asp1382GlyfsTer?
NM_001127717.3:c.8803dup	NP_001121189.2:p.Asp2935GlyfsTer?
NM_001127718.3:c.3976dup	NP_001121190.2:p.Asp1326GlyfsTer?
NM_198129.3:c.8971dup	NP_937762.2:p.Asp2991GlyfsTer?
NM_000227.6:c.4144dup MANE Plus Clinical	NP_000218.3:p.Asp1382GlyfsTer?
NM_001127717.4:c.8803dup	NP_001121189.2:p.Asp2935GlyfsTer?
NM_001127718.4:c.3976dup	NP_001121190.2:p.Asp1326GlyfsTer?
NM_198129.4:c.8971dup MANE Select	NP_937762.2:p.Asp2991GlyfsTer?