LDH info

Canonical Allele Identifier: CA344175
Gene: AIP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 41202
ClinVar RCV Id: RCV000034101
dbSNP Id: rs267606574

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490412_67490414del , CM000673.2:g.67490412_67490414del GRCh38
NC_000011.9:g.67257883_67257885del , CM000673.1:g.67257883_67257885del GRCh37
NC_000011.8:g.67014459_67014461del NCBI36
NG_008969.1:g.12379_12381del , LRG_460:g.12379_12381del

Transcript Alleles

HGVS Amino-acid change
NM_001302959.1:c.565_567del VV NP_001289888.1:p.Tyr189del
NM_001302960.1:c.742_744del VV NP_001289889.1:p.Tyr248del
NM_003977.3:c.742_744del VV NP_003968.3:p.Tyr248del
XM_024448761.1:c.742_744del XP_024304529.1:p.Tyr248del
NM_003977.4:c.742_744del VV MANE Preferred NP_003968.3:p.Tyr248del
ENST00000279146.7:c.742_744del ENSP00000279146.3:p.Tyr248del
ENST00000525341.1:n.394_396del ENSP00000476993.1:p.Tyr132del
ENST00000528641.6:c.553_555del ENSP00000434982.2:p.Tyr185del