Canonical Allele Identifier: CA597491557

Gene: LDHA

Linked Data

• ClinVar Variation Id: 2160092
• ClinVar RCV Id: RCV003075772
• dbSNP Id: rs1463808788
• gnomAD v2: 11-18428826-TAA-T
• gnomAD v4: 11-18407279-TAA-T
• MyVariant Identifiers: chr11:g.18428827_18428828del (hg19) ; chr11:g.18407280_18407281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18407281_18407282del , CM000673.2:g.18407281_18407282del	GRCh38
NC_000011.9:g.18428828_18428829del , CM000673.1:g.18428828_18428829del	GRCh37
NC_000011.8:g.18385404_18385405del	NCBI36
NG_008185.1:g.17847_17848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422447.8:c.999_*1del MANE Select	ENSP00000395337.3:n.[c.999_*1del;Ter333=]
ENST00000227157.8:c.*149_*150del	ENSP00000227157.4:n.*149_*150del
ENST00000375710.7:n.1866_1867del
ENST00000379412.9:c.999_*1del	ENSP00000368722.5:n.[c.999_*1del;Ter333=]
ENST00000396222.6:c.730_731del	ENSP00000379524.2:p.Lys244ValfsTer3
ENST00000422447.7:c.999_*1del	ENSP00000395337.3:n.[c.999_*1del;Ter333=]
ENST00000430553.6:c.825_*1del	ENSP00000406172.2:n.[c.825_*1del;Ter275=]
ENST00000538451.1:n.886_887del
ENST00000540430.5:c.1086_*1del	ENSP00000445175.1:n.[c.1086_*1del;Ter362=]
ENST00000545215.5:c.*743_*744del	ENSP00000442637.1:n.*743_*744del
NM_001135239.1:c.825_*1del	NP_001128711.1:n.[c.825_*1del;Ter275=]
NM_001165414.1:c.1086_*1del	NP_001158886.1:n.[c.1086_*1del;Ter362=]
NM_001165415.1:c.730_731del	NP_001158887.1:p.Lys244ValfsTer3
NM_001165416.1:c.*149_*150del	NP_001158888.1:n.*149_*150del
NM_005566.3:c.999_*1del	NP_005557.1:n.[c.999_*1del;Ter333=]
NR_028500.1:n.1153_1154del
NM_005566.4:c.999_*1del MANE Select	NP_005557.1:n.[c.999_*1del;Ter333=]
NM_001165415.2:c.730_731del	NP_001158887.1:p.Lys244ValfsTer3
NM_001135239.2:c.825_*1del	NP_001128711.1:n.[c.825_*1del;Ter275=]
NM_001165414.2:c.1086_*1del	NP_001158886.1:n.[c.1086_*1del;Ter362=]
NM_001165416.2:c.*149_*150del	NP_001158888.1:n.*149_*150del
NR_028500.2:n.979_980del