LDH info

Canonical Allele Identifier: CA16041680
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371270
ClinVar RCV Id: RCV000412459
dbSNP Id: rs1057517141

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51970698_51970699insAA , CM000675.2:g.51970698_51970699insAA GRCh38
NC_000013.10:g.52544834_52544835insAA , CM000675.1:g.52544834_52544835insAA GRCh37
NC_000013.9:g.51442835_51442836insAA NCBI36
NG_008806.1:g.45797_45798insTT

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.1337_1338insTT VV NP_000044.2:p.Gln447CysfsTer?
NM_001005918.2:c.1337_1338insTT VV NP_001005918.1:p.Gln447CysfsTer?
NM_001243182.1:c.1004_1005insTT VV NP_001230111.1:p.Gln336CysfsTer?
XM_005266423.2:c.1241_1242insTT XP_005266480.1:p.Gln415CysfsTer?
XM_005266424.3:c.1241_1242insTT XP_005266481.1:p.Gln415CysfsTer?
XM_005266427.2:c.1337_1338insTT XP_005266484.1:p.Gln447CysfsTer?
XM_005266428.1:c.1337_1338insTT XP_005266485.1:p.Gln447CysfsTer?
XM_005266430.3:c.1337_1338insTT XP_005266487.1:p.Gln447CysfsTer?
XM_005266431.2:c.1301_1302insTT XP_005266488.1:p.Gln435CysfsTer?
XM_005266432.2:c.1337_1338insTT XP_005266489.1:p.Gln447CysfsTer?
XM_006719837.2:c.1241_1242insTT XP_006719900.1:p.Gln415CysfsTer?
XM_011535117.1:c.1241_1242insTT XP_011533419.1:p.Gln415CysfsTer?
XM_011535118.1:c.1337_1338insTT XP_011533420.1:p.Gln447CysfsTer?
XM_011535119.1:c.1337_1338insTT XP_011533421.1:p.Gln447CysfsTer?
XM_011535120.1:c.1337_1338insTT XP_011533422.1:p.Gln447CysfsTer?
XM_011535121.1:c.1337_1338insTT XP_011533423.1:p.Gln447CysfsTer?
XM_011535122.1:c.5_6insTT XP_011533424.1:p.Gln3CysfsTer?
XR_941601.1:n.1556_1557insTT
XR_941602.1:n.1556_1557insTT
XR_941603.1:n.1556_1557insTT
XR_941604.1:n.1556_1557insTT
NM_001330578.1:c.1337_1338insTT VV NP_001317507.1:p.Gln447CysfsTer?
NM_001330579.1:c.1337_1338insTT VV NP_001317508.1:p.Gln447CysfsTer?
XM_005266424.4:c.1241_1242insTT XP_005266481.1:p.Gln415CysfsTer?
XM_005266430.4:c.1337_1338insTT XP_005266487.1:p.Gln447CysfsTer?
XM_005266431.4:c.1301_1302insTT XP_005266488.1:p.Gln435CysfsTer?
XM_006719837.3:c.1241_1242insTT XP_006719900.1:p.Gln415CysfsTer?
XM_011535117.3:c.1241_1242insTT XP_011533419.1:p.Gln415CysfsTer?
XM_017020627.1:c.1241_1242insTT XP_016876116.1:p.Gln415CysfsTer?
ENST00000242839.8:c.1337_1338insTT ENSP00000242839.4:p.Gln447CysfsTer?
ENST00000344297.8:c.1337_1338insTT ENSP00000342559.5:p.Gln447CysfsTer?
ENST00000400366.5:c.1004_1005insTT ENSP00000383217.3:p.Gln336CysfsTer?
ENST00000400370.8:c.1285+3237_1285+3238insTT ENSP00000383221.3:p.=
ENST00000418097.7:c.1337_1338insTT ENSP00000393343.2:p.Gln447CysfsTer?
ENST00000448424.6:c.1337_1338insTT ENSP00000416738.2:p.Gln447CysfsTer?
ENST00000482841.6:n.1458_1459insTT
ENST00000483772.1:n.93_94insTT
ENST00000634308.1:c.1337_1338insTT ENSP00000489234.1:p.Gln447CysfsTer?
ENST00000634844.1:c.1337_1338insTT ENSP00000489398.1:p.Gln447CysfsTer?
ENST00000635406.1:n.212-24220_212-24219insTT