LDH info

Canonical Allele Identifier: CA16043632
Gene: ANKRD11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 374225
ClinVar RCV Id: RCV000415439
dbSNP Id: rs1057518987

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89280325del , CM000678.2:g.89280325del GRCh38
NC_000016.9:g.89346733del , CM000678.1:g.89346733del GRCh37
NC_000016.8:g.87874234del NCBI36
NG_032003.1:g.215238del
NG_032003.2:g.215238del

Transcript Alleles

HGVS Amino-acid change
NM_001256182.1:c.6218del VV NP_001243111.1:p.Pro2073ArgfsTer14
NM_001256183.1:c.6218del VV NP_001243112.1:p.Pro2073ArgfsTer14
NM_013275.5:c.6218del VV NP_037407.4:p.Pro2073ArgfsTer14
XM_006721181.1:c.6116del XP_006721244.1:p.Pro2039ArgfsTer14
XM_006721184.2:c.5921del XP_006721247.1:p.Pro1974ArgfsTer14
XM_011523051.1:c.6218del XP_011521353.1:p.Pro2073ArgfsTer14
XM_011523052.1:c.6218del XP_011521354.1:p.Pro2073ArgfsTer14
XM_011523053.1:c.6218del XP_011521355.1:p.Pro2073ArgfsTer14
XM_011523054.1:c.6116del XP_011521356.1:p.Pro2039ArgfsTer14
XM_011523055.1:c.6116del XP_011521357.1:p.Pro2039ArgfsTer14
XM_011523056.1:c.6089del XP_011521358.1:p.Pro2030ArgfsTer14
XM_011523057.1:c.6218del XP_011521359.1:p.Pro2073ArgfsTer14
XM_011523051.3:c.6218del XP_011521353.1:p.Pro2073ArgfsTer14
XM_011523053.2:c.6218del XP_011521355.1:p.Pro2073ArgfsTer14
XM_011523054.2:c.6116del XP_011521356.1:p.Pro2039ArgfsTer14
XM_011523055.2:c.6116del XP_011521357.1:p.Pro2039ArgfsTer14
XM_011523056.2:c.6089del XP_011521358.1:p.Pro2030ArgfsTer14
XM_011523057.2:c.6218del XP_011521359.1:p.Pro2073ArgfsTer14
XM_017023182.2:c.6218del XP_016878671.1:p.Pro2073ArgfsTer14
XM_017023183.1:c.6218del XP_016878672.1:p.Pro2073ArgfsTer14
XM_017023184.1:c.6218del XP_016878673.1:p.Pro2073ArgfsTer14
XM_017023185.1:c.6218del XP_016878674.1:p.Pro2073ArgfsTer14
XM_017023186.1:c.6218del XP_016878675.1:p.Pro2073ArgfsTer14
XM_017023187.1:c.6218del XP_016878676.1:p.Pro2073ArgfsTer14
XM_024450244.1:c.6116del XP_024306012.1:p.Pro2039ArgfsTer14
NM_013275.6:c.6218del VV MANE Preferred NP_037407.4:p.Pro2073ArgfsTer14
NM_001256182.2:c.6218del VV NP_001243111.1:p.Pro2073ArgfsTer14
NM_001256183.2:c.6218del VV NP_001243112.1:p.Pro2073ArgfsTer14
ENST00000301030.8:c.6218del ENSP00000301030.4:p.Pro2073ArgfsTer14
ENST00000330736.9:c.*6021del ENSP00000330815.5:p.=
ENST00000378330.6:c.6218del ENSP00000367581.2:p.Pro2073ArgfsTer14
ENST00000562194.1:n.152-5133del