Canonical Allele Identifier: CA1737390087

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587763_117587765delinsGAC , CM000669.2:g.117587763_117587765delinsGAC	GRCh38
NC_000007.13:g.117227817_117227819delinsGAC , CM000669.1:g.117227817_117227819delinsGAC	GRCh37
NC_000007.12:g.117015053_117015055delinsGAC	NCBI36
NG_016465.4:g.126980_126982delinsGAC , LRG_663:g.126980_126982delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1609_1611delinsGAC	ENSP00000497673.2:p.Asp537=
ENST00000647978.2:c.*1323_*1325delinsGAC	ENSP00000497658.1:n.*1323_*1325delinsGAC
ENST00000649781.2:c.1426_1428delinsGAC	ENSP00000497203.1:p.Asp476=
ENST00000685018.2:c.1609_1611delinsGAC	ENSP00000510194.2:p.Asp537=
ENST00000687278.2:c.1609_1611delinsGAC	ENSP00000509593.2:p.Asp537=
ENST00000699585.1:c.1609_1611delinsGAC	ENSP00000514456.1:p.Asp537=
ENST00000699598.1:c.1609_1611delinsGAC	ENSP00000514467.1:p.Asp537=
ENST00000699599.1:c.1609_1611delinsGAC	ENSP00000514468.1:p.Asp537=
ENST00000699600.1:c.1609_1611delinsGAC	ENSP00000514469.1:p.Asp537=
ENST00000699601.1:c.1609_1611delinsGAC	ENSP00000514470.1:p.Asp537=
ENST00000699602.1:c.1609_1611delinsGAC	ENSP00000514471.1:p.Asp537=
ENST00000699604.1:c.*1433_*1435delinsGAC	ENSP00000514472.1:n.*1433_*1435delinsGAC
ENST00000699605.1:c.1183_1185delinsGAC	ENSP00000514473.1:p.Asp395=
ENST00000003084.11:c.1609_1611delinsGAC MANE Select	ENSP00000003084.6:p.Asp537=
ENST00000647978.1:c.*1323_*1325delinsGAC	ENSP00000497658.1:n.*1323_*1325delinsGAC
ENST00000648260.1:c.1402-15063_1402-15061delinsGAC	ENSP00000497957.1:n.1402-15063_1402-15061delinsGAC
ENST00000649406.1:c.1426_1428delinsGAC	ENSP00000497965.1:p.Asp476=
ENST00000649781.1:c.1426_1428delinsGAC	ENSP00000497203.1:p.Asp476=
ENST00000003084.10:c.1609_1611delinsGAC	ENSP00000003084.6:p.Asp537=
ENST00000426809.5:c.1519_1521delinsGAC	ENSP00000389119.1:p.Asp507=
NM_000492.3:c.1609_1611delinsGAC , LRG_663t1:c.1609_1611delinsGAC	NP_000483.3:p.Asp537=
XM_011515751.1:c.1699_1701delinsGAC	XP_011514053.1:p.Asp567=
XM_011515752.1:c.1699_1701delinsGAC	XP_011514054.1:p.Asp567=
XM_011515753.1:c.1366_1368delinsGAC	XP_011514055.1:p.Asp456=
XM_011515754.1:c.1366_1368delinsGAC	XP_011514056.1:p.Asp456=
NM_000492.4:c.1609_1611delinsGAC MANE Select	NP_000483.3:p.Asp537=