LDH info

Canonical Allele Identifier: CA274709
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190169
ClinVar RCV Id: RCV000170388
dbSNP Id: rs786205173

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470347_49470348insA , CM000672.2:g.49470347_49470348insA GRCh38
NC_000010.10:g.50678393_50678394insA , CM000672.1:g.50678393_50678394insA GRCh37
NC_000010.9:g.50348399_50348400insA NCBI36
NG_009442.1:g.73754_73755insT , LRG_465:g.73754_73755insT

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.3612_3613insT VV NP_000115.1:p.Lys1205Ter
XR_945953.1:n.243-1218_243-1217insA
NM_001346440.1:c.3612_3613insT VV NP_001333369.1:p.Lys1205Ter
NM_000124.4:c.3612_3613insT VV MANE Preferred NP_000115.1:p.Lys1205Ter
ENST00000355832.9:c.3612_3613insT ENSP00000348089.5:p.Lys1205Ter
ENST00000623073.3:c.*1908_*1909insT ENSP00000485650.1:p.=
ENST00000623115.3:c.1722_1723insT ENSP00000485321.1:p.Lys575Ter
ENST00000624341.3:n.1444_1445insT