Canonical Allele Identifier: CA2290312342
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876342_23876343delinsCG , CM000680.2:g.23876342_23876343delinsCG GRCh38
NC_000018.9:g.21456306_21456307delinsCG , CM000680.1:g.21456306_21456307delinsCG GRCh37
NC_000018.8:g.19710304_19710305delinsCG NCBI36
NG_007853.2:g.191745_191746delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.220_221delinsCG MANE Plus Clinical ENSP00000269217.5:p.Arg74=
ENST00000313654.14:c.5047_5048delinsCG MANE Select ENSP00000324532.8:p.Arg1683=
ENST00000649721.1:c.1939_1940delinsCG ENSP00000497885.1:p.Arg647=
ENST00000269217.10:c.220_221delinsCG ENSP00000269217.5:p.Arg74=
ENST00000313654.13:c.5047_5048delinsCG ENSP00000324532.8:p.Arg1683=
ENST00000399516.7:c.5047_5048delinsCG ENSP00000382432.2:p.Arg1683=
ENST00000587184.5:c.220_221delinsCG ENSP00000466557.1:p.Arg74=
NM_000227.4:c.220_221delinsCG NP_000218.3:p.Arg74=
NM_001127717.2:c.5047_5048delinsCG NP_001121189.2:p.Arg1683=
NM_001127718.2:c.220_221delinsCG NP_001121190.2:p.Arg74=
NM_198129.2:c.5047_5048delinsCG NP_937762.2:p.Arg1683=
XM_011525978.1:c.5074_5075delinsCG XP_011524280.1:p.Arg1692=
XM_011525979.1:c.5065_5066delinsCG XP_011524281.1:p.Arg1689=
XM_011525980.1:c.5056_5057delinsCG XP_011524282.1:p.Arg1686=
XM_011525981.1:c.4942_4943delinsCG XP_011524283.1:p.Arg1648=
XM_011525982.1:c.5074_5075delinsCG XP_011524284.1:p.Arg1692=
XM_011525978.2:c.5074_5075delinsCG XP_011524280.1:p.Arg1692=
XM_011525979.2:c.5065_5066delinsCG XP_011524281.1:p.Arg1689=
XM_011525980.2:c.5056_5057delinsCG XP_011524282.1:p.Arg1686=
XM_011525981.2:c.4942_4943delinsCG XP_011524283.1:p.Arg1648=
XM_011525982.2:c.5074_5075delinsCG XP_011524284.1:p.Arg1692=
XM_017025743.1:c.2926_2927delinsCG XP_016881232.1:p.Arg976=
XM_017025744.1:c.616_617delinsCG XP_016881233.1:p.Arg206=
XR_001753199.1:n.5315_5316delinsCG
NM_000227.5:c.220_221delinsCG NP_000218.3:p.Arg74=
NM_001127717.3:c.5047_5048delinsCG NP_001121189.2:p.Arg1683=
NM_001127718.3:c.220_221delinsCG NP_001121190.2:p.Arg74=
NM_198129.3:c.5047_5048delinsCG NP_937762.2:p.Arg1683=
NM_000227.6:c.220_221delinsCG MANE Plus Clinical NP_000218.3:p.Arg74=
NM_001127717.4:c.5047_5048delinsCG NP_001121189.2:p.Arg1683=
NM_001127718.4:c.220_221delinsCG NP_001121190.2:p.Arg74=
NM_198129.4:c.5047_5048delinsCG MANE Select NP_937762.2:p.Arg1683=