LDH info

Canonical Allele Identifier: CA16041937
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371342
ClinVar RCV Id: RCV000409194
dbSNP Id: rs1057517196

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23905614_23905617delinsCCT , CM000680.2:g.23905614_23905617delinsCCT GRCh38
NC_000018.9:g.21485578_21485581delinsCCT , CM000680.1:g.21485578_21485581delinsCCT GRCh37
NC_000018.8:g.19739576_19739579delinsCCT NCBI36
NG_007853.2:g.221017_221020delinsCCT

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.1881_1884delinsCCT VV NP_000218.3:p.Lys627AsnfsTer17
NM_001127717.2:c.6540_6543delinsCCT VV NP_001121189.2:p.Lys2180AsnfsTer17
NM_001127718.2:c.1713_1716delinsCCT VV NP_001121190.2:p.Lys571AsnfsTer17
NM_198129.2:c.6708_6711delinsCCT VV NP_937762.2:p.Lys2236AsnfsTer17
XM_011525978.1:c.6735_6738delinsCCT XP_011524280.1:p.Lys2245AsnfsTer17
XM_011525979.1:c.6726_6729delinsCCT XP_011524281.1:p.Lys2242AsnfsTer17
XM_011525980.1:c.6717_6720delinsCCT XP_011524282.1:p.Lys2239AsnfsTer17
XM_011525981.1:c.6603_6606delinsCCT XP_011524283.1:p.Lys2201AsnfsTer17
XM_011525982.1:c.6735_6738delinsCCT XP_011524284.1:p.Lys2245AsnfsTer5
XM_011525978.2:c.6735_6738delinsCCT XP_011524280.1:p.Lys2245AsnfsTer17
XM_011525979.2:c.6726_6729delinsCCT XP_011524281.1:p.Lys2242AsnfsTer17
XM_011525980.2:c.6717_6720delinsCCT XP_011524282.1:p.Lys2239AsnfsTer17
XM_011525981.2:c.6603_6606delinsCCT XP_011524283.1:p.Lys2201AsnfsTer17
XM_011525982.2:c.6735_6738delinsCCT XP_011524284.1:p.Lys2245AsnfsTer5
XM_017025743.1:c.4587_4590delinsCCT XP_016881232.1:p.Lys1529AsnfsTer17
XM_017025744.1:c.2277_2280delinsCCT XP_016881233.1:p.Lys759AsnfsTer17
XR_001753199.1:n.6976_6979delinsCCT
NM_000227.5:c.1881_1884delinsCCT VV NP_000218.3:p.Lys627AsnfsTer17
NM_001127717.3:c.6540_6543delinsCCT VV NP_001121189.2:p.Lys2180AsnfsTer17
NM_001127718.3:c.1713_1716delinsCCT VV NP_001121190.2:p.Lys571AsnfsTer17
NM_198129.3:c.6708_6711delinsCCT VV NP_937762.2:p.Lys2236AsnfsTer17
ENST00000269217.10:c.1881_1884delinsCCT ENSP00000269217.5:p.Lys627AsnfsTer17
ENST00000313654.13:c.6708_6711delinsCCT ENSP00000324532.8:p.Lys2236AsnfsTer17
ENST00000399516.7:n.6540_6543delinsCCT ENSP00000382432.2:p.Lys2180AsnfsTer17
ENST00000586751.5:n.1486_1489delinsCCT
ENST00000587184.5:n.1713_1716delinsCCT ENSP00000466557.1:p.Lys571AsnfsTer17
ENST00000588770.5:n.1286_1289delinsCCT