LDH info

Canonical Allele Identifier: CA327326
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53838
ClinVar RCV Id: RCV000047015

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652851_117652854del , CM000669.2:g.117652851_117652854del GRCh38
NC_000007.13:g.117292905_117292908del , CM000669.1:g.117292905_117292908del GRCh37
NC_000007.12:g.117080141_117080144del NCBI36
NG_016465.4:g.192068_192071del , LRG_663:g.192068_192071del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3883_3886del , LRG_663t1:c.3883_3886del NP_000483.3:p.Ile1295PhefsTer?
XM_011515751.1:c.3973_3976del XP_011514053.1:p.Ile1325PhefsTer?
XM_011515752.1:c.3973_3976del XP_011514054.1:p.Ile1325PhefsTer?
XM_011515753.1:c.3640_3643del XP_011514055.1:p.Ile1214PhefsTer?
XM_011515754.1:c.3640_3643del XP_011514056.1:p.Ile1214PhefsTer?
ENST00000003084.10:c.3883_3886del ENSP00000003084.6:p.Ile1295PhefsTer?
ENST00000426809.5:n.3793_3796del ENSP00000389119.1:p.Ile1265PhefsTer?
ENST00000600166.1:n.9_12del