LDH info

Canonical Allele Identifier: CA16043510
Gene: PKD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 374141
ClinVar RCV Id: RCV000415421
dbSNP Id: rs1057518923

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2115399dup , CM000678.2:g.2115399dup GRCh38
NC_000016.9:g.2165400dup , CM000678.1:g.2165400dup GRCh37
NC_000016.8:g.2105401dup NCBI36
NG_008617.1:g.25503dup

Transcript Alleles

HGVS Amino-acid change
NM_000296.3:c.2079dup VV NP_000287.3:p.Pro694AlafsTer20
NM_001009944.2:c.2079dup VV NP_001009944.2:p.Pro694AlafsTer20
XM_011522525.1:c.2133dup XP_011520827.1:p.Pro712AlafsTer20
XM_011522526.1:c.2133dup XP_011520828.1:p.Pro712AlafsTer20
XM_011522527.1:c.2133dup XP_011520829.1:p.Pro712AlafsTer20
XM_011522528.1:c.2133dup XP_011520830.1:p.Pro712AlafsTer20
XM_011522529.1:c.2133dup XP_011520831.1:p.Pro712AlafsTer20
XM_011522530.1:c.2079dup XP_011520832.1:p.Pro694AlafsTer20
XM_011522531.1:c.2061dup XP_011520833.1:p.Pro688AlafsTer20
XM_011522532.1:c.2007dup XP_011520834.1:p.Pro670AlafsTer20
XM_011522533.1:c.1926dup XP_011520835.1:p.Pro643AlafsTer20
XM_011522534.1:c.1869dup XP_011520836.1:p.Pro624AlafsTer20
XM_011522536.1:c.2133dup XP_011520838.1:p.Pro712AlafsTer20
XR_932867.1:n.2148dup
XR_932868.1:n.2148dup
XR_932869.1:n.2148dup
XR_932870.1:n.2148dup
XM_011522528.3:c.2133dup XP_011520830.1:p.Pro712AlafsTer20
XM_011522529.2:c.2133dup XP_011520831.1:p.Pro712AlafsTer20
XM_024450298.1:c.2079dup XP_024306066.1:p.Pro694AlafsTer20
XM_024450299.1:c.2007dup XP_024306067.1:p.Pro670AlafsTer20
XM_024450300.1:c.1869dup XP_024306068.1:p.Pro624AlafsTer20
NM_000296.4:c.2079dup VV NP_000287.4:p.Pro694AlafsTer20
NM_001009944.3:c.2079dup VV MANE Preferred NP_001009944.3:p.Pro694AlafsTer20
ENST00000262304.8:c.2079dup ENSP00000262304.4:p.Pro694AlafsTer20
ENST00000423118.5:c.2079dup ENSP00000399501.1:p.Pro694AlafsTer20
ENST00000488185.2:n.472+2093dup
ENST00000568591.5:n.1010dup ENSP00000457162.1:p.=