Canonical Allele Identifier: CA1737392489

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590418_117590419delinsCA , CM000669.2:g.117590418_117590419delinsCA	GRCh38
NC_000007.13:g.117230472_117230473delinsCA , CM000669.1:g.117230472_117230473delinsCA	GRCh37
NC_000007.12:g.117017708_117017709delinsCA	NCBI36
NG_016465.4:g.129635_129636delinsCA , LRG_663:g.129635_129636delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1745_1746delinsCA	ENSP00000497673.2:p.Thr582=
ENST00000647978.2:c.*1459_*1460delinsCA	ENSP00000497658.1:n.*1459_*1460delinsCA
ENST00000649781.2:c.1562_1563delinsCA	ENSP00000497203.1:p.Thr521=
ENST00000685018.2:c.1745_1746delinsCA	ENSP00000510194.2:p.Thr582=
ENST00000687278.2:c.1745_1746delinsCA	ENSP00000509593.2:p.Thr582=
ENST00000699585.1:c.1745_1746delinsCA	ENSP00000514456.1:p.Thr582=
ENST00000699598.1:c.1745_1746delinsCA	ENSP00000514467.1:p.Thr582=
ENST00000699599.1:c.1745_1746delinsCA	ENSP00000514468.1:p.Thr582=
ENST00000699600.1:c.1745_1746delinsCA	ENSP00000514469.1:p.Thr582=
ENST00000699601.1:c.*45_*46delinsCA	ENSP00000514470.1:n.*45_*46delinsCA
ENST00000699602.1:c.1745_1746delinsCA	ENSP00000514471.1:p.Thr582=
ENST00000699604.1:c.*1569_*1570delinsCA	ENSP00000514472.1:n.*1569_*1570delinsCA
ENST00000699605.1:c.1319_1320delinsCA	ENSP00000514473.1:p.Thr440=
ENST00000003084.11:c.1745_1746delinsCA MANE Select	ENSP00000003084.6:p.Thr582=
ENST00000647978.1:c.*1459_*1460delinsCA	ENSP00000497658.1:n.*1459_*1460delinsCA
ENST00000648260.1:c.1402-12408_1402-12407delinsCA	ENSP00000497957.1:n.1402-12408_1402-12407...
ENST00000649406.1:c.1562_1563delinsCA	ENSP00000497965.1:p.Thr521=
ENST00000649781.1:c.1562_1563delinsCA	ENSP00000497203.1:p.Thr521=
ENST00000003084.10:c.1745_1746delinsCA	ENSP00000003084.6:p.Thr582=
ENST00000426809.5:c.1655_1656delinsCA	ENSP00000389119.1:p.Thr552=
NM_000492.3:c.1745_1746delinsCA , LRG_663t1:c.1745_1746delinsCA	NP_000483.3:p.Thr582=
XM_011515751.1:c.1835_1836delinsCA	XP_011514053.1:p.Thr612=
XM_011515752.1:c.1835_1836delinsCA	XP_011514054.1:p.Thr612=
XM_011515753.1:c.1502_1503delinsCA	XP_011514055.1:p.Thr501=
XM_011515754.1:c.1502_1503delinsCA	XP_011514056.1:p.Thr501=
NM_000492.4:c.1745_1746delinsCA MANE Select	NP_000483.3:p.Thr582=