LDH info

Canonical Allele Identifier: CA16602240
Gene: CAPN10 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5094
ClinVar RCV Id: RCV000005399

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240594845_240594876dup , CM000664.2:g.240594845_240594876dup GRCh38
NC_000002.11:g.241534262_241534293dup , CM000664.1:g.241534262_241534293dup GRCh37
NC_000002.10:g.241182935_241182966dup NCBI36
NG_011558.2:g.13130_13161dup

Transcript Alleles

HGVS Amino-acid change
NM_023083.3:c.997+136_998-148dup VV NP_075571.1:p.=
NM_023085.3:c.997+136_998-148dup VV NP_075573.2:p.=
NM_023083.4:c.997+136_998-148dup VV MANE Preferred NP_075571.2:p.=
ENST00000270361.15:c.*161+136_*162-148dup ENSP00000270361.11:p.=
ENST00000270364.11:c.273+5371_273+5402dup ENSP00000270364.7:p.=
ENST00000352879.8:c.142-3043_142-3012dup ENSP00000289381.6:p.=
ENST00000354082.8:c.997+136_998-148dup ENSP00000270362.6:p.=
ENST00000357048.8:c.997+136_998-148dup ENSP00000349556.4:p.=
ENST00000391983.7:c.997+136_998-148dup ENSP00000375843.3:p.=
ENST00000391984.6:c.997+136_998-148dup ENSP00000375844.2:p.=
ENST00000404753.7:c.997+136_998-148dup ENSP00000384422.3:p.=
ENST00000416591.5:c.997+136_998-148dup ENSP00000400144.1:p.=
ENST00000465943.1:n.469+136_470-148dup
ENST00000494738.5:n.2576+136_2577-148dup