Canonical Allele Identifier: CA327560
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53996
ClinVar RCV Id: RCV000047188 RCV001826694
dbSNP Id: rs397508750
MyVariant Identifiers: chr7:g.117174383_117174386del (hg19) chr7:g.117534329_117534332del (hg38)
PubMed: PMID:23974870
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117534329_117534332del , CM000669.2:g.117534329_117534332del GRCh38
NC_000007.13:g.117174383_117174386del , CM000669.1:g.117174383_117174386del GRCh37
NC_000007.12:g.116961619_116961622del NCBI36
NG_016465.4:g.73546_73549del , LRG_663:g.73546_73549del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.543_546del ENSP00000497673.2:p.Leu183PhefsTer5
ENST00000647978.2:c.*440_*443del ENSP00000497658.1:n.*440_*443del
ENST00000649781.2:c.543_546del ENSP00000497203.1:p.Leu183PhefsTer5
ENST00000685018.2:c.543_546del ENSP00000510194.2:p.Leu183PhefsTer5
ENST00000687278.2:c.543_546del ENSP00000509593.2:p.Leu183PhefsTer5
ENST00000699585.1:c.543_546del ENSP00000514456.1:p.Leu183PhefsTer5
ENST00000699596.1:c.543_546del ENSP00000514465.1:p.Leu183PhefsTer5
ENST00000699597.1:c.543_546del ENSP00000514466.1:p.Leu183PhefsTer5
ENST00000699598.1:c.543_546del ENSP00000514467.1:p.Leu183PhefsTer5
ENST00000699599.1:c.543_546del ENSP00000514468.1:p.Leu183PhefsTer5
ENST00000699600.1:c.543_546del ENSP00000514469.1:p.Leu183PhefsTer5
ENST00000699601.1:c.543_546del ENSP00000514470.1:p.Leu183PhefsTer5
ENST00000699602.1:c.543_546del ENSP00000514471.1:p.Leu183PhefsTer5
ENST00000699604.1:c.*367_*370del ENSP00000514472.1:n.*367_*370del
ENST00000699605.1:c.300_303del ENSP00000514473.1:p.Leu102PhefsTer5
ENST00000003084.11:c.543_546del MANE Select ENSP00000003084.6:p.Leu183PhefsTer5
ENST00000647978.1:c.*440_*443del ENSP00000497658.1:n.*440_*443del
ENST00000648260.1:c.543_546del ENSP00000497957.1:p.Leu183PhefsTer5
ENST00000649406.1:c.543_546del ENSP00000497965.1:p.Leu183PhefsTer5
ENST00000649781.1:c.543_546del ENSP00000497203.1:p.Leu183PhefsTer5
ENST00000673785.1:c.300_303del ENSP00000501235.1:p.Leu102PhefsTer5
ENST00000003084.10:c.543_546del ENSP00000003084.6:p.Leu183PhefsTer5
ENST00000426809.5:c.490-919_490-916del ENSP00000389119.1:n.490-919_490-916del
NM_000492.3:c.543_546del , LRG_663t1:c.543_546del NP_000483.3:p.Leu183PhefsTer5
XM_011515751.1:c.633_636del XP_011514053.1:p.Leu213PhefsTer5
XM_011515752.1:c.633_636del XP_011514054.1:p.Leu213PhefsTer5
XM_011515753.1:c.300_303del XP_011514055.1:p.Leu102PhefsTer5
XM_011515754.1:c.300_303del XP_011514056.1:p.Leu102PhefsTer5
NM_000492.4:c.543_546del MANE Select NP_000483.3:p.Leu183PhefsTer5
Search 100 bp 5'
Search 100 bp 3'