Canonical Allele Identifier: CA1737384036

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610009_117610033delinsGGATTAAGAAAATGTGGCACATATA , CM000669.2:g.117610009_117610033delinsGGATTAAGAAAATGTGGCACATATA	GRCh38
NC_000007.13:g.117250063_117250087delinsGGATTAAGAAAATGTGGCACATATA , CM000669.1:g.117250063_117250087delinsGGATTAAGAAAATGTGGCACATATA	GRCh37
NC_000007.12:g.117037299_117037323delinsGGATTAAGAAAATGTGGCACATATA	NCBI36
NG_016465.4:g.149226_149250delinsGGATTAAGAAAATGTGGCACATATA , LRG_663:g.149226_149250delinsGGATTAAGAAAATGTGGCACATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497673.2:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000647978.2:c.*2703-510_*2703-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497658.1:n.*2703-510_*2703-486delinsGGATTAAGAAAATGTG...
ENST00000649781.2:c.2806-510_2806-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497203.1:n.2806-510_2806-486delinsGGATTAAGAAAATGTGGC...
ENST00000685018.2:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000510194.2:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000687278.2:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000509593.2:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699585.1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514456.1:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699598.1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514467.1:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699599.1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514468.1:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699600.1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514469.1:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699601.1:c.*1289-510_*1289-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514470.1:n.*1289-510_*1289-486delinsGGATTAAGAAAATGTG...
ENST00000699602.1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514471.1:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000699604.1:c.*2813-510_*2813-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514472.1:n.*2813-510_*2813-486delinsGGATTAAGAAAATGTG...
ENST00000699605.1:c.2563-510_2563-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000514473.1:n.2563-510_2563-486delinsGGATTAAGAAAATGTGGC...
ENST00000687278.1:c.580-510_580-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000509593.1:n.580-510_580-486delinsGGATTAAGAAAATGTGGCAC...
ENST00000003084.11:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA MANE Select	ENSP00000003084.6:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000647720.1:c.639-510_639-486delinsGGATTAAGAAAATGTGGCACATATA
ENST00000648260.1:c.1771-510_1771-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497957.1:n.1771-510_1771-486delinsGGATTAAGAAAATGTGGC...
ENST00000649406.1:c.2806-510_2806-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497965.1:n.2806-510_2806-486delinsGGATTAAGAAAATGTGGC...
ENST00000649781.1:c.2806-510_2806-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000497203.1:n.2806-510_2806-486delinsGGATTAAGAAAATGTGGC...
ENST00000003084.10:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000003084.6:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGC...
ENST00000426809.5:c.2899-510_2899-486delinsGGATTAAGAAAATGTGGCACATATA	ENSP00000389119.1:n.2899-510_2899-486delinsGGATTAAGAAAATGTGGC...
NM_000492.3:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA , LRG_663t1:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA	NP_000483.3:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATAT...
XM_011515751.1:c.3079-510_3079-486delinsGGATTAAGAAAATGTGGCACATATA	XP_011514053.1:n.3079-510_3079-486delinsGGATTAAGAAAATGTGGCACA...
XM_011515752.1:c.3079-510_3079-486delinsGGATTAAGAAAATGTGGCACATATA	XP_011514054.1:n.3079-510_3079-486delinsGGATTAAGAAAATGTGGCACA...
XM_011515753.1:c.2746-510_2746-486delinsGGATTAAGAAAATGTGGCACATATA	XP_011514055.1:n.2746-510_2746-486delinsGGATTAAGAAAATGTGGCACA...
XM_011515754.1:c.2746-510_2746-486delinsGGATTAAGAAAATGTGGCACATATA	XP_011514056.1:n.2746-510_2746-486delinsGGATTAAGAAAATGTGGCACA...
NM_000492.4:c.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATATA MANE Select	NP_000483.3:n.2989-510_2989-486delinsGGATTAAGAAAATGTGGCACATAT...