Canonical Allele Identifier: CA1737398642

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627598_117627599delinsAC , CM000669.2:g.117627598_117627599delinsAC	GRCh38
NC_000007.13:g.117267652_117267653delinsAC , CM000669.1:g.117267652_117267653delinsAC	GRCh37
NC_000007.12:g.117054888_117054889delinsAC	NCBI36
NG_016465.4:g.166815_166816delinsAC , LRG_663:g.166815_166816delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+28_3517+29delinsAC	ENSP00000497673.2:n.3517+28_3517+29delinsAC
ENST00000647978.2:c.*3259_*3260delinsAC	ENSP00000497658.1:n.*3259_*3260delinsAC
ENST00000649781.2:c.3362_3363delinsAC	ENSP00000497203.1:p.Tyr1121=
ENST00000685018.2:c.3545_3546delinsAC	ENSP00000510194.2:p.Tyr1182=
ENST00000687278.2:c.*198_*199delinsAC	ENSP00000509593.2:n.*198_*199delinsAC
ENST00000699585.1:c.3517+28_3517+29delinsAC	ENSP00000514456.1:n.3517+28_3517+29delinsAC
ENST00000699598.1:c.3545_3546delinsAC	ENSP00000514467.1:p.Tyr1182=
ENST00000699599.1:c.3545_3546delinsAC	ENSP00000514468.1:p.Tyr1182=
ENST00000699600.1:c.*206_*207delinsAC	ENSP00000514469.1:n.*206_*207delinsAC
ENST00000699601.1:c.*1920_*1921delinsAC	ENSP00000514470.1:n.*1920_*1921delinsAC
ENST00000699602.1:c.3539_3540delinsAC	ENSP00000514471.1:p.Tyr1180=
ENST00000699604.1:c.*3369_*3370delinsAC	ENSP00000514472.1:n.*3369_*3370delinsAC
ENST00000699605.1:c.3119_3120delinsAC	ENSP00000514473.1:p.Tyr1040=
ENST00000685018.1:c.293_294delinsAC	ENSP00000510194.1:p.Tyr98=
ENST00000687278.1:c.1332_1333delinsAC	ENSP00000509593.1:n.1332_1333delinsAC
ENST00000689011.1:c.127_128delinsAC
ENST00000003084.11:c.3545_3546delinsAC MANE Select	ENSP00000003084.6:p.Tyr1182=
ENST00000647720.1:c.1167+28_1167+29delinsAC
ENST00000648260.1:c.2327_2328delinsAC	ENSP00000497957.1:p.Tyr776=
ENST00000649406.1:c.3362_3363delinsAC	ENSP00000497965.1:p.Tyr1121=
ENST00000649781.1:c.3362_3363delinsAC	ENSP00000497203.1:p.Tyr1121=
ENST00000003084.10:c.3545_3546delinsAC	ENSP00000003084.6:p.Tyr1182=
ENST00000426809.5:c.3455_3456delinsAC	ENSP00000389119.1:p.Tyr1152=
ENST00000468795.1:c.370_371delinsAC
NM_000492.3:c.3545_3546delinsAC , LRG_663t1:c.3545_3546delinsAC	NP_000483.3:p.Tyr1182=
XM_011515751.1:c.3635_3636delinsAC	XP_011514053.1:p.Tyr1212=
XM_011515752.1:c.3635_3636delinsAC	XP_011514054.1:p.Tyr1212=
XM_011515753.1:c.3302_3303delinsAC	XP_011514055.1:p.Tyr1101=
XM_011515754.1:c.3302_3303delinsAC	XP_011514056.1:p.Tyr1101=
NM_000492.4:c.3545_3546delinsAC MANE Select	NP_000483.3:p.Tyr1182=