LDH info

Canonical Allele Identifier: CA342998
Gene: PRSS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38364
ClinVar RCV Id: RCV000031921
dbSNP Id: rs397507441

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142750577_142750585dup , CM000669.2:g.142750577_142750585dup GRCh38
NC_000007.13:g.142458428_142458436dup , CM000669.1:g.142458428_142458436dup GRCh37
NC_000007.12:g.142138002_142138010dup NCBI36
NG_008307.3:g.6094_6102dup

Transcript Alleles

HGVS Amino-acid change
NM_002769.4:c.63_71dup VV NP_002760.1:p.Ile24_Val25insAspLysIle
XM_011516411.1:c.738_746dup XP_011514713.1:p.Ile249_Val250insAspLysIl...
NM_002769.5:c.63_71dup VV MANE Preferred NP_002760.1:p.Ile24_Val25insAspLysIle
ENST00000311737.11:c.63_71dup ENSP00000308720.7:p.Ile24_Val25insAspLysI...
ENST00000485223.1:n.54-52_54-44dup
ENST00000486171.5:c.63_71dup ENSP00000417854.1:p.Ile24_Val25insAspLysI...
ENST00000497041.1:n.67_75dup
ENST00000610416.2:c.370+29391_370+29399dup ENSP00000482915.1:p.=
ENST00000612126.4:c.63_71dup ENSP00000479959.1:p.Ile24_Val25insAspLysI...
ENST00000619214.4:c.63_71dup ENSP00000481361.1:p.Ile24_Val25insAspLysI...
ENST00000633114.1:c.63_71dup ENSP00000487822.1:p.Ile24_Val25insAspLysI...
ENST00000634019.1:c.82+1786_82+1794dup ENSP00000488594.1:p.=