LDH info

Canonical Allele Identifier: CA5174783
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370735
ClinVar RCV Id: RCV000412398
dbSNP Id: rs763445509

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108900314dup , CM000671.2:g.108900314dup GRCh38
NC_000009.11:g.111662594dup , CM000671.1:g.111662594dup GRCh37
NC_000009.10:g.110702415dup NCBI36
NG_008788.1:g.39015dup , LRG_251:g.39015dup

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.2076dup , LRG_251t1:c.2076dup NP_003631.2:p.Arg693GlufsTer?
XM_005252285.2:c.1734dup XP_005252342.1:p.Arg579GlufsTer?
XM_011519136.1:c.2076dup XP_011517438.1:p.Arg693GlufsTer?
XM_011519137.1:c.1734dup XP_011517439.1:p.Arg579GlufsTer?
XR_929859.1:n.2392dup
NM_001318360.1:c.1734dup VV NP_001305289.1:p.Arg579GlufsTer?
NM_001330749.1:c.1029dup VV NP_001317678.1:p.Arg344GlufsTer?
NM_003640.4:c.2076dup VV NP_003631.2:p.Arg693GlufsTer?
XM_011519136.2:c.2076dup XP_011517438.1:p.Arg693GlufsTer?
XR_929859.3:n.2403dup
NM_003640.5:c.2076dup VV MANE Preferred NP_003631.2:p.Arg693GlufsTer?
NM_001318360.2:c.1734dup VV NP_001305289.1:p.Arg579GlufsTer?
NM_001330749.2:c.1029dup VV NP_001317678.1:p.Arg344GlufsTer?
ENST00000374647.9:c.2076dup ENSP00000363779.5:p.Arg693GlufsTer?
ENST00000537196.1:c.1029dup ENSP00000439367.1:p.Arg344GlufsTer?