Canonical Allele Identifier: CA8916313

Gene: LAMA3

Linked Data

• ExAC: 18:21482999 G / GGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
• MyVariant Identifiers: chr18:g.21482999_21483000insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903035_23903036insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA , CM000680.2:g.23903035_23903036insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	GRCh38
NC_000018.9:g.21482999_21483000insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA , CM000680.1:g.21482999_21483000insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	GRCh37
NC_000018.8:g.19736997_19736998insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NCBI36
NG_007853.2:g.218438_218439insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA MANE Plus Clinical	ENSP00000269217.5:p.Gln468GlyfsTer26
ENST00000313654.14:c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA MANE Select	ENSP00000324532.8:p.Gln2077GlyfsTer26
ENST00000649721.1:c.3120_3121insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	ENSP00000497885.1:p.Gln1041GlyfsTer26
ENST00000269217.10:c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	ENSP00000269217.5:p.Gln468GlyfsTer26
ENST00000313654.13:c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	ENSP00000324532.8:p.Gln2077GlyfsTer26
ENST00000399516.7:c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	ENSP00000382432.2:p.Gln2021GlyfsTer26
ENST00000586751.5:c.1006_1007insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
ENST00000587184.5:c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	ENSP00000466557.1:p.Gln412GlyfsTer26
ENST00000588770.5:n.806_807insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
NM_000227.4:c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_000218.3:p.Gln468GlyfsTer26
NM_001127717.2:c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121189.2:p.Gln2021GlyfsTer26
NM_001127718.2:c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121190.2:p.Gln412GlyfsTer26
NM_198129.2:c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_937762.2:p.Gln2077GlyfsTer26
XM_011525978.1:c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524280.1:p.Gln2086GlyfsTer26
XM_011525979.1:c.6246_6247insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524281.1:p.Gln2083GlyfsTer26
XM_011525980.1:c.6237_6238insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524282.1:p.Gln2080GlyfsTer26
XM_011525981.1:c.6123_6124insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524283.1:p.Gln2042GlyfsTer26
XM_011525982.1:c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524284.1:p.Gln2086GlyfsTer26
XM_011525978.2:c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524280.1:p.Gln2086GlyfsTer26
XM_011525979.2:c.6246_6247insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524281.1:p.Gln2083GlyfsTer26
XM_011525980.2:c.6237_6238insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524282.1:p.Gln2080GlyfsTer26
XM_011525981.2:c.6123_6124insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524283.1:p.Gln2042GlyfsTer26
XM_011525982.2:c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_011524284.1:p.Gln2086GlyfsTer26
XM_017025743.1:c.4107_4108insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_016881232.1:p.Gln1370GlyfsTer26
XM_017025744.1:c.1797_1798insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	XP_016881233.1:p.Gln600GlyfsTer26
XR_001753199.1:n.6496_6497insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
NM_000227.5:c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_000218.3:p.Gln468GlyfsTer26
NM_001127717.3:c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121189.2:p.Gln2021GlyfsTer26
NM_001127718.3:c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121190.2:p.Gln412GlyfsTer26
NM_198129.3:c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_937762.2:p.Gln2077GlyfsTer26
NM_000227.6:c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA MANE Plus Clinical	NP_000218.3:p.Gln468GlyfsTer26
NM_001127717.4:c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121189.2:p.Gln2021GlyfsTer26
NM_001127718.4:c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA	NP_001121190.2:p.Gln412GlyfsTer26
NM_198129.4:c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA MANE Select	NP_937762.2:p.Gln2077GlyfsTer26