Canonical Allele Identifier: CA326852
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53516
ClinVar RCV Id: RCV000046624 RCV003473489
dbSNP Id: rs397508400
MyVariant Identifiers: chr7:g.117235082_117235092del (hg19) chr7:g.117595028_117595038del (hg38)
PubMed: PMID:23974870
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595028_117595038del , CM000669.2:g.117595028_117595038del GRCh38
NC_000007.13:g.117235082_117235092del , CM000669.1:g.117235082_117235092del GRCh37
NC_000007.12:g.117022318_117022328del NCBI36
NG_016465.4:g.134245_134255del , LRG_663:g.134245_134255del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2589_2599del ENSP00000497673.2:p.Ile864SerfsTer28
ENST00000647978.2:c.*2303_*2313del ENSP00000497658.1:n.*2303_*2313del
ENST00000649781.2:c.2406_2416del ENSP00000497203.1:p.Ile803SerfsTer28
ENST00000685018.2:c.2589_2599del ENSP00000510194.2:p.Ile864SerfsTer28
ENST00000687278.2:c.2589_2599del ENSP00000509593.2:p.Ile864SerfsTer28
ENST00000699585.1:c.2589_2599del ENSP00000514456.1:p.Ile864SerfsTer28
ENST00000699598.1:c.2589_2599del ENSP00000514467.1:p.Ile864SerfsTer28
ENST00000699599.1:c.2589_2599del ENSP00000514468.1:p.Ile864SerfsTer28
ENST00000699600.1:c.2589_2599del ENSP00000514469.1:p.Ile864SerfsTer28
ENST00000699601.1:c.*889_*899del ENSP00000514470.1:n.*889_*899del
ENST00000699602.1:c.2589_2599del ENSP00000514471.1:p.Ile864SerfsTer28
ENST00000699604.1:c.*2413_*2423del ENSP00000514472.1:n.*2413_*2423del
ENST00000699605.1:c.2163_2173del ENSP00000514473.1:p.Ile722SerfsTer28
ENST00000687278.1:c.180_190del ENSP00000509593.1:p.Ile61SerfsTer28
ENST00000003084.11:c.2589_2599del MANE Select ENSP00000003084.6:p.Ile864SerfsTer28
ENST00000647720.1:c.239_249del
ENST00000648260.1:c.1402-7798_1402-7788del ENSP00000497957.1:n.1402-7798_1402-7788de...
ENST00000649406.1:c.2406_2416del ENSP00000497965.1:p.Ile803SerfsTer28
ENST00000649781.1:c.2406_2416del ENSP00000497203.1:p.Ile803SerfsTer28
ENST00000003084.10:c.2589_2599del ENSP00000003084.6:p.Ile864SerfsTer28
ENST00000426809.5:c.2499_2509del ENSP00000389119.1:p.Ile834SerfsTer28
NM_000492.3:c.2589_2599del , LRG_663t1:c.2589_2599del NP_000483.3:p.Ile864SerfsTer28
XM_011515751.1:c.2679_2689del XP_011514053.1:p.Ile894SerfsTer28
XM_011515752.1:c.2679_2689del XP_011514054.1:p.Ile894SerfsTer28
XM_011515753.1:c.2346_2356del XP_011514055.1:p.Ile783SerfsTer28
XM_011515754.1:c.2346_2356del XP_011514056.1:p.Ile783SerfsTer28
NM_000492.4:c.2589_2599del MANE Select NP_000483.3:p.Ile864SerfsTer28
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