Canonical Allele Identifier: CA1737422708

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665460_117665461delinsAC , CM000669.2:g.117665460_117665461delinsAC	GRCh38
NC_000007.13:g.117305514_117305515delinsAC , CM000669.1:g.117305514_117305515delinsAC	GRCh37
NC_000007.12:g.117092750_117092751delinsAC	NCBI36
NG_016465.4:g.204677_204678delinsAC , LRG_663:g.204677_204678delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*347_*348delinsAC	ENSP00000497673.2:n.*347_*348delinsAC
ENST00000647978.2:c.*3852_*3853delinsAC	ENSP00000497658.1:n.*3852_*3853delinsAC
ENST00000649781.2:c.3955_3956delinsAC	ENSP00000497203.1:p.Thr1319=
ENST00000685018.2:c.*351_*352delinsAC	ENSP00000510194.2:n.*351_*352delinsAC
ENST00000687278.2:c.*791_*792delinsAC	ENSP00000509593.2:n.*791_*792delinsAC
ENST00000699585.1:c.*347_*348delinsAC	ENSP00000514456.1:n.*347_*348delinsAC
ENST00000699598.1:c.4138_4139delinsAC	ENSP00000514467.1:p.Thr1380=
ENST00000699599.1:c.*351_*352delinsAC	ENSP00000514468.1:n.*351_*352delinsAC
ENST00000699600.1:c.*799_*800delinsAC	ENSP00000514469.1:n.*799_*800delinsAC
ENST00000699601.1:c.*2513_*2514delinsAC	ENSP00000514470.1:n.*2513_*2514delinsAC
ENST00000699602.1:c.4132_4133delinsAC	ENSP00000514471.1:p.Thr1378=
ENST00000699604.1:c.*3962_*3963delinsAC	ENSP00000514472.1:n.*3962_*3963delinsAC
ENST00000699605.1:c.3712_3713delinsAC	ENSP00000514473.1:p.Thr1238=
ENST00000699606.1:n.2306_2307delinsAC
ENST00000685018.1:c.1002_1003delinsAC	ENSP00000510194.1:n.1002_1003delinsAC
ENST00000687278.1:c.1925_1926delinsAC	ENSP00000509593.1:n.1925_1926delinsAC
ENST00000689011.1:c.720_721delinsAC
ENST00000003084.11:c.4138_4139delinsAC MANE Select	ENSP00000003084.6:p.Thr1380=
ENST00000647720.1:c.1588_1589delinsAC
ENST00000649781.1:c.3955_3956delinsAC	ENSP00000497203.1:p.Thr1319=
ENST00000003084.10:c.4138_4139delinsAC	ENSP00000003084.6:p.Thr1380=
ENST00000426809.5:c.4048_4049delinsAC	ENSP00000389119.1:p.Thr1350=
ENST00000600166.1:c.264_265delinsAC
NM_000492.3:c.4138_4139delinsAC , LRG_663t1:c.4138_4139delinsAC	NP_000483.3:p.Thr1380=
XM_011515751.1:c.4228_4229delinsAC	XP_011514053.1:p.Thr1410=
XM_011515752.1:c.4228_4229delinsAC	XP_011514054.1:p.Thr1410=
XM_011515753.1:c.3895_3896delinsAC	XP_011514055.1:p.Thr1299=
XM_011515754.1:c.3895_3896delinsAC	XP_011514056.1:p.Thr1299=
NM_000492.4:c.4138_4139delinsAC MANE Select	NP_000483.3:p.Thr1380=