LDH info

Canonical Allele Identifier: CA325535
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7140
ClinVar RCV Id: RCV000007560
dbSNP Id: rs121908776

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559616_117559617del , CM000669.2:g.117559616_117559617del GRCh38
NC_000007.13:g.117199670_117199671del , CM000669.1:g.117199670_117199671del GRCh37
NC_000007.12:g.116986906_116986907del NCBI36
NG_016465.4:g.98833_98834del , LRG_663:g.98833_98834del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1545_1546del , LRG_663t1:c.1545_1546del NP_000483.3:p.Tyr515Ter
XM_011515751.1:c.1635_1636del XP_011514053.1:p.Tyr545Ter
XM_011515752.1:c.1635_1636del XP_011514054.1:p.Tyr545Ter
XM_011515753.1:c.1302_1303del XP_011514055.1:p.Tyr434Ter
XM_011515754.1:c.1302_1303del XP_011514056.1:p.Tyr434Ter
NR_149084.1:n.221+1119_221+1120del
ENST00000003084.10:c.1545_1546del ENSP00000003084.6:p.Tyr515Ter
ENST00000426809.5:n.1455_1456del ENSP00000389119.1:p.Tyr485Ter