Canonical Allele Identifier: CA1737384480
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610424_117610425delinsGC , CM000669.2:g.117610424_117610425delinsGC GRCh38
NC_000007.13:g.117250478_117250479delinsGC , CM000669.1:g.117250478_117250479delinsGC GRCh37
NC_000007.12:g.117037714_117037715delinsGC NCBI36
NG_016465.4:g.149641_149642delinsGC , LRG_663:g.149641_149642delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2989-95_2989-94delinsGC ENSP00000497673.2:n.2989-95_2989-94delinsGC
ENST00000647978.2:c.*2703-95_*2703-94delinsGC ENSP00000497658.1:n.*2703-95_*2703-94delinsGC
ENST00000649781.2:c.2806-95_2806-94delinsGC ENSP00000497203.1:n.2806-95_2806-94delinsGC
ENST00000685018.2:c.2989-95_2989-94delinsGC ENSP00000510194.2:n.2989-95_2989-94delinsGC
ENST00000687278.2:c.2989-95_2989-94delinsGC ENSP00000509593.2:n.2989-95_2989-94delinsGC
ENST00000699585.1:c.2989-95_2989-94delinsGC ENSP00000514456.1:n.2989-95_2989-94delinsGC
ENST00000699598.1:c.2989-95_2989-94delinsGC ENSP00000514467.1:n.2989-95_2989-94delinsGC
ENST00000699599.1:c.2989-95_2989-94delinsGC ENSP00000514468.1:n.2989-95_2989-94delinsGC
ENST00000699600.1:c.2989-95_2989-94delinsGC ENSP00000514469.1:n.2989-95_2989-94delinsGC
ENST00000699601.1:c.*1289-95_*1289-94delinsGC ENSP00000514470.1:n.*1289-95_*1289-94delinsGC
ENST00000699602.1:c.2989-95_2989-94delinsGC ENSP00000514471.1:n.2989-95_2989-94delinsGC
ENST00000699604.1:c.*2813-95_*2813-94delinsGC ENSP00000514472.1:n.*2813-95_*2813-94delinsGC
ENST00000699605.1:c.2563-95_2563-94delinsGC ENSP00000514473.1:n.2563-95_2563-94delinsGC
ENST00000687278.1:c.580-95_580-94delinsGC ENSP00000509593.1:n.580-95_580-94delinsGC
ENST00000003084.11:c.2989-95_2989-94delinsGC MANE Select ENSP00000003084.6:n.2989-95_2989-94delinsGC
ENST00000647720.1:c.639-95_639-94delinsGC
ENST00000648260.1:c.1771-95_1771-94delinsGC ENSP00000497957.1:n.1771-95_1771-94delinsGC
ENST00000649406.1:c.2806-95_2806-94delinsGC ENSP00000497965.1:n.2806-95_2806-94delinsGC
ENST00000649781.1:c.2806-95_2806-94delinsGC ENSP00000497203.1:n.2806-95_2806-94delinsGC
ENST00000003084.10:c.2989-95_2989-94delinsGC ENSP00000003084.6:n.2989-95_2989-94delinsGC
ENST00000426809.5:c.2899-95_2899-94delinsGC ENSP00000389119.1:n.2899-95_2899-94delinsGC
NM_000492.3:c.2989-95_2989-94delinsGC , LRG_663t1:c.2989-95_2989-94delinsGC NP_000483.3:n.2989-95_2989-94delinsGC
XM_011515751.1:c.3079-95_3079-94delinsGC XP_011514053.1:n.3079-95_3079-94delinsGC
XM_011515752.1:c.3079-95_3079-94delinsGC XP_011514054.1:n.3079-95_3079-94delinsGC
XM_011515753.1:c.2746-95_2746-94delinsGC XP_011514055.1:n.2746-95_2746-94delinsGC
XM_011515754.1:c.2746-95_2746-94delinsGC XP_011514056.1:n.2746-95_2746-94delinsGC
NM_000492.4:c.2989-95_2989-94delinsGC MANE Select NP_000483.3:n.2989-95_2989-94delinsGC