LDH info

Canonical Allele Identifier: CA16040696
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371462
ClinVar RCV Id: RCV000410525
dbSNP Id: rs1057517290

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209629846_209629847dup , CM000663.2:g.209629846_209629847dup GRCh38
NC_000001.10:g.209803191_209803192dup , CM000663.1:g.209803191_209803192dup GRCh37
NC_000001.9:g.207869814_207869815dup NCBI36
NG_007116.1:g.27636_27637dup

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1029_1030dup VV NP_000219.2:p.Asp344ValfsTer?
NM_001017402.1:c.1029_1030dup VV NP_001017402.1:p.Asp344ValfsTer?
NM_001127641.1:c.1029_1030dup VV NP_001121113.1:p.Asp344ValfsTer?
XM_005273124.3:c.1029_1030dup XP_005273181.1:p.Asp344ValfsTer?
XM_005273124.4:c.1029_1030dup XP_005273181.1:p.Asp344ValfsTer?
XM_017001272.2:c.837_838dup XP_016856761.1:p.Asp280ValfsTer?
NM_000228.3:c.1029_1030dup VV MANE Preferred NP_000219.2:p.Asp344ValfsTer?
ENST00000356082.8:c.1029_1030dup ENSP00000348384.3:p.Asp344ValfsTer?
ENST00000367030.7:c.1029_1030dup ENSP00000355997.3:p.Asp344ValfsTer?
ENST00000391911.5:c.1029_1030dup ENSP00000375778.1:p.Asp344ValfsTer?