Canonical Allele Identifier: CA1737379438

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT , CM000669.2:g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	GRCh38
NC_000007.13:g.117246730_117246767delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT , CM000669.1:g.117246730_117246767delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	GRCh37
NC_000007.12:g.117033966_117034003delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	NCBI36
NG_016465.4:g.145893_145930delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT , LRG_663:g.145893_145930delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497673.2:p.Gly971=
ENST00000647978.2:c.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497658.1:n.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAA...
ENST00000649781.2:c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497203.1:p.Gly910=
ENST00000685018.2:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000510194.2:p.Gly971=
ENST00000687278.2:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000509593.2:p.Gly971=
ENST00000699585.1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514456.1:p.Gly971=
ENST00000699598.1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514467.1:p.Gly971=
ENST00000699599.1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514468.1:p.Gly971=
ENST00000699600.1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514469.1:p.Gly971=
ENST00000699601.1:c.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514470.1:n.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAA...
ENST00000699602.1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514471.1:p.Gly971=
ENST00000699604.1:c.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514472.1:n.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAA...
ENST00000699605.1:c.2485_2522delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000514473.1:p.Gly829=
ENST00000687278.1:c.502_539delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000509593.1:p.Gly168=
ENST00000003084.11:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT MANE Select	ENSP00000003084.6:p.Gly971=
ENST00000647720.1:c.561_598delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT
ENST00000648260.1:c.1693_1730delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497957.1:p.Gly565=
ENST00000649406.1:c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497965.1:p.Gly910=
ENST00000649781.1:c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000497203.1:p.Gly910=
ENST00000003084.10:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000003084.6:p.Gly971=
ENST00000426809.5:c.2821_2858delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	ENSP00000389119.1:p.Gly941=
NM_000492.3:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT , LRG_663t1:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	NP_000483.3:p.Gly971=
XM_011515751.1:c.3001_3038delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	XP_011514053.1:p.Gly1001=
XM_011515752.1:c.3001_3038delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	XP_011514054.1:p.Gly1001=
XM_011515753.1:c.2668_2705delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	XP_011514055.1:p.Gly890=
XM_011515754.1:c.2668_2705delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT	XP_011514056.1:p.Gly890=
NM_000492.4:c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT MANE Select	NP_000483.3:p.Gly971=