LDH info

Canonical Allele Identifier: CA327059
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48684
dbSNP Id: rs121908801

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117530938del , CM000669.2:g.117530938del GRCh38
NC_000007.13:g.117170992del , CM000669.1:g.117170992del GRCh37
NC_000007.12:g.116958228del NCBI36
NG_016465.4:g.70155del , LRG_663:g.70155del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.313del , LRG_663t1:c.313del NP_000483.3:p.Ile105SerfsTer2
XM_011515751.1:c.403del XP_011514053.1:p.Ile135SerfsTer2
XM_011515752.1:c.403del XP_011514054.1:p.Ile135SerfsTer2
XM_011515753.1:c.70del XP_011514055.1:p.Ile24SerfsTer2
XM_011515754.1:c.70del XP_011514056.1:p.Ile24SerfsTer2
NM_000492.4:c.313del VV NP_000483.3:p.Ile105SerfsTer2
ENST00000003084.10:c.313del ENSP00000003084.6:p.Ile105SerfsTer2
ENST00000426809.5:n.313del ENSP00000389119.1:p.Ile105SerfsTer2
ENST00000446805.1:c.70del ENSP00000417012.1:p.Ile24SerfsTer2