Canonical Allele Identifier: CA2695205219

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642510_117642519delinsC , CM000669.2:g.117642510_117642519delinsC	GRCh38
NC_000007.13:g.117282564_117282573delinsC , CM000669.1:g.117282564_117282573delinsC	GRCh37
NC_000007.12:g.117069800_117069809delinsC	NCBI36
NG_016465.4:g.181727_181736delinsC , LRG_663:g.181727_181736delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3590_*8delinsC	ENSP00000497673.2:n.[c.3590_*8delinsC;Ter1197SerextTer?]
ENST00000647978.2:c.*3504_*3513delinsC	ENSP00000497658.1:n.*3504_*3513delinsC
ENST00000649781.2:c.3607_3616delinsC	ENSP00000497203.1:p.Glu1203_Ile1206delinsLeu
ENST00000685018.2:c.3790_3799delinsC	ENSP00000510194.2:p.Glu1264_Ile1267delinsLeu
ENST00000687278.2:c.*443_*452delinsC	ENSP00000509593.2:n.*443_*452delinsC
ENST00000699585.1:c.3590_*8delinsC	ENSP00000514456.1:n.[c.3590_*8delinsC;Ter1197SerextTer?]
ENST00000699598.1:c.3790_3799delinsC	ENSP00000514467.1:p.Glu1264_Ile1267delinsLeu
ENST00000699599.1:c.3790_3799delinsC	ENSP00000514468.1:p.Glu1264_Ile1267delinsLeu
ENST00000699600.1:c.*451_*460delinsC	ENSP00000514469.1:n.*451_*460delinsC
ENST00000699601.1:c.*2165_*2174delinsC	ENSP00000514470.1:n.*2165_*2174delinsC
ENST00000699602.1:c.3784_3793delinsC	ENSP00000514471.1:p.Glu1262_Ile1265delinsLeu
ENST00000699604.1:c.*3614_*3623delinsC	ENSP00000514472.1:n.*3614_*3623delinsC
ENST00000699605.1:c.3364_3373delinsC	ENSP00000514473.1:p.Glu1122_Ile1125delinsLeu
ENST00000685018.1:c.538_547delinsC	ENSP00000510194.1:p.Glu180_Ile183delinsLeu
ENST00000687278.1:c.1577_1586delinsC	ENSP00000509593.1:n.1577_1586delinsC
ENST00000689011.1:c.372_381delinsC
ENST00000003084.11:c.3790_3799delinsC MANE Select	ENSP00000003084.6:p.Glu1264_Ile1267delinsLeu
ENST00000647720.1:c.1240_1249delinsC
ENST00000649781.1:c.3607_3616delinsC	ENSP00000497203.1:p.Glu1203_Ile1206delinsLeu
ENST00000003084.10:c.3790_3799delinsC	ENSP00000003084.6:p.Glu1264_Ile1267delinsLeu
ENST00000426809.5:c.3700_3709delinsC	ENSP00000389119.1:p.Glu1234_Ile1237delinsLeu
NM_000492.3:c.3790_3799delinsC , LRG_663t1:c.3790_3799delinsC	NP_000483.3:p.Glu1264_Ile1267delinsLeu
XM_011515751.1:c.3880_3889delinsC	XP_011514053.1:p.Glu1294_Ile1297delinsLeu
XM_011515752.1:c.3880_3889delinsC	XP_011514054.1:p.Glu1294_Ile1297delinsLeu
XM_011515753.1:c.3547_3556delinsC	XP_011514055.1:p.Glu1183_Ile1186delinsLeu
XM_011515754.1:c.3547_3556delinsC	XP_011514056.1:p.Glu1183_Ile1186delinsLeu
NM_000492.4:c.3790_3799delinsC MANE Select	NP_000483.3:p.Glu1264_Ile1267delinsLeu