Canonical Allele Identifier: CA16041932
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 371489
ClinVar RCV Id: RCV000412128
dbSNP Id: rs1057517314
MyVariant Identifiers: chr18:g.21478776dupT (hg19) chr18:g.23898812dupT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23898812dup , CM000680.2:g.23898812dup GRCh38
NC_000018.9:g.21478776dup , CM000680.1:g.21478776dup GRCh37
NC_000018.8:g.19732774dup NCBI36
NG_007853.2:g.214215dup

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.861dup MANE Plus Clinical ENSP00000269217.5:p.Asp288Ter
ENST00000313654.14:c.5688dup MANE Select ENSP00000324532.8:p.Asp1897Ter
ENST00000649721.1:c.2580dup ENSP00000497885.1:p.Asp861Ter
ENST00000269217.10:c.861dup ENSP00000269217.5:p.Asp288Ter
ENST00000313654.13:c.5688dup ENSP00000324532.8:p.Asp1897Ter
ENST00000399516.7:c.5688dup ENSP00000382432.2:p.Asp1897Ter
ENST00000586709.1:n.76dup
ENST00000586751.5:c.466dup
ENST00000587184.5:c.861dup ENSP00000466557.1:p.Asp288Ter
ENST00000588770.5:n.266dup
NM_000227.4:c.861dup NP_000218.3:p.Asp288Ter
NM_001127717.2:c.5688dup NP_001121189.2:p.Asp1897Ter
NM_001127718.2:c.861dup NP_001121190.2:p.Asp288Ter
NM_198129.2:c.5688dup NP_937762.2:p.Asp1897Ter
XM_011525978.1:c.5715dup XP_011524280.1:p.Asp1906Ter
XM_011525979.1:c.5706dup XP_011524281.1:p.Asp1903Ter
XM_011525980.1:c.5697dup XP_011524282.1:p.Asp1900Ter
XM_011525981.1:c.5583dup XP_011524283.1:p.Asp1862Ter
XM_011525982.1:c.5715dup XP_011524284.1:p.Asp1906Ter
XM_011525978.2:c.5715dup XP_011524280.1:p.Asp1906Ter
XM_011525979.2:c.5706dup XP_011524281.1:p.Asp1903Ter
XM_011525980.2:c.5697dup XP_011524282.1:p.Asp1900Ter
XM_011525981.2:c.5583dup XP_011524283.1:p.Asp1862Ter
XM_011525982.2:c.5715dup XP_011524284.1:p.Asp1906Ter
XM_017025743.1:c.3567dup XP_016881232.1:p.Asp1190Ter
XM_017025744.1:c.1257dup XP_016881233.1:p.Asp420Ter
XR_001753199.1:n.5956dup
NM_000227.5:c.861dup NP_000218.3:p.Asp288Ter
NM_001127717.3:c.5688dup NP_001121189.2:p.Asp1897Ter
NM_001127718.3:c.861dup NP_001121190.2:p.Asp288Ter
NM_198129.3:c.5688dup NP_937762.2:p.Asp1897Ter
NM_000227.6:c.861dup MANE Plus Clinical NP_000218.3:p.Asp288Ter
NM_001127717.4:c.5688dup NP_001121189.2:p.Asp1897Ter
NM_001127718.4:c.861dup NP_001121190.2:p.Asp288Ter
NM_198129.4:c.5688dup MANE Select NP_937762.2:p.Asp1897Ter
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