LDH info

Canonical Allele Identifier: CA16040951

Identifiers and link-outs to other resources

ClinVar Variation Id: 371311
ClinVar RCV Id: RCV000411882
dbSNP Id: rs1057517171

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287783_186287789del , CM000666.2:g.186287783_186287789del GRCh38
NC_000004.11:g.187208937_187208943del , CM000666.1:g.187208937_187208943del GRCh37
NC_000004.10:g.187445931_187445937del NCBI36
NG_008051.1:g.26820_26826del , LRG_583:g.26820_26826del

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.1676_1682del , LRG_583t1:c.1676_1682del (F11) NP_000119.1:p.Ile559ThrfsTer30
NR_033900.1:n.1066+639_1066+645del (F11-AS1)
XM_005262821.2:c.1679_1685del (F11) XP_005262878.1:p.Ile560ThrfsTer30
XM_005262822.2:c.1583_1589del (F11) XP_005262879.1:p.Ile528ThrfsTer30
XM_005262823.2:c.1409_1415del (F11) XP_005262880.1:p.Ile470ThrfsTer30
XM_006714137.1:c.1631_1637del (F11) XP_006714200.1:p.Ile544ThrfsTer30
XM_005262821.4:c.1679_1685del (F11) XP_005262878.1:p.Ile560ThrfsTer30
XM_005262822.4:c.1583_1589del (F11) XP_005262879.1:p.Ile528ThrfsTer30
XM_005262823.4:c.1409_1415del (F11) XP_005262880.1:p.Ile470ThrfsTer30
XM_006714137.3:c.1631_1637del (F11) XP_006714200.1:p.Ile544ThrfsTer30
NM_000128.4:c.1676_1682del (F11) VV NP_000119.1:p.Ile559ThrfsTer30
ENST00000264691.4:n.276_282del
ENST00000264692.8:c.1514_1520del ENSP00000264692.5:p.Ile505ThrfsTer30
ENST00000403665.6:c.1676_1682del ENSP00000384957.2:p.Ile559ThrfsTer30
ENST00000503841.1:n.195_201del