Canonical Allele Identifier: CA1737392357

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614862_117614863delinsAT , CM000669.2:g.117614862_117614863delinsAT	GRCh38
NC_000007.13:g.117254916_117254917delinsAT , CM000669.1:g.117254916_117254917delinsAT	GRCh37
NC_000007.12:g.117042152_117042153delinsAT	NCBI36
NG_016465.4:g.154079_154080delinsAT , LRG_663:g.154079_154080delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+149_3468+150delinsAT	ENSP00000497673.2:n.3468+149_3468+150delinsAT
ENST00000647978.2:c.*3182+149_*3182+150delinsAT	ENSP00000497658.1:n.*3182+149_*3182+150delinsAT
ENST00000649781.2:c.3285+149_3285+150delinsAT	ENSP00000497203.1:n.3285+149_3285+150delinsAT
ENST00000685018.2:c.3468+149_3468+150delinsAT	ENSP00000510194.2:n.3468+149_3468+150delinsAT
ENST00000687278.2:c.3468+149_3468+150delinsAT	ENSP00000509593.2:n.3468+149_3468+150delinsAT
ENST00000699585.1:c.3468+149_3468+150delinsAT	ENSP00000514456.1:n.3468+149_3468+150delinsAT
ENST00000699598.1:c.3468+149_3468+150delinsAT	ENSP00000514467.1:n.3468+149_3468+150delinsAT
ENST00000699599.1:c.3468+149_3468+150delinsAT	ENSP00000514468.1:n.3468+149_3468+150delinsAT
ENST00000699600.1:c.3468+149_3468+150delinsAT	ENSP00000514469.1:n.3468+149_3468+150delinsAT
ENST00000699601.1:c.*1843+149_*1843+150delinsAT	ENSP00000514470.1:n.*1843+149_*1843+150delinsAT
ENST00000699602.1:c.3462+149_3462+150delinsAT	ENSP00000514471.1:n.3462+149_3462+150delinsAT
ENST00000699604.1:c.*3292+149_*3292+150delinsAT	ENSP00000514472.1:n.*3292+149_*3292+150delinsAT
ENST00000699605.1:c.3042+149_3042+150delinsAT	ENSP00000514473.1:n.3042+149_3042+150delinsAT
ENST00000685018.1:c.216+149_216+150delinsAT	ENSP00000510194.1:n.216+149_216+150delinsAT
ENST00000687278.1:c.1059+149_1059+150delinsAT	ENSP00000509593.1:n.1059+149_1059+150delinsAT
ENST00000689011.1:c.50+149_50+150delinsAT
ENST00000003084.11:c.3468+149_3468+150delinsAT MANE Select	ENSP00000003084.6:n.3468+149_3468+150delinsAT
ENST00000647720.1:c.1118+149_1118+150delinsAT
ENST00000648260.1:c.2250+149_2250+150delinsAT	ENSP00000497957.1:n.2250+149_2250+150delinsAT
ENST00000649406.1:c.3285+149_3285+150delinsAT	ENSP00000497965.1:n.3285+149_3285+150delinsAT
ENST00000649781.1:c.3285+149_3285+150delinsAT	ENSP00000497203.1:n.3285+149_3285+150delinsAT
ENST00000003084.10:c.3468+149_3468+150delinsAT	ENSP00000003084.6:n.3468+149_3468+150delinsAT
ENST00000426809.5:c.3378+149_3378+150delinsAT	ENSP00000389119.1:n.3378+149_3378+150delinsAT
ENST00000468795.1:c.293+149_293+150delinsAT
NM_000492.3:c.3468+149_3468+150delinsAT , LRG_663t1:c.3468+149_3468+150delinsAT	NP_000483.3:n.3468+149_3468+150delinsAT
XM_011515751.1:c.3558+149_3558+150delinsAT	XP_011514053.1:n.3558+149_3558+150delinsAT
XM_011515752.1:c.3558+149_3558+150delinsAT	XP_011514054.1:n.3558+149_3558+150delinsAT
XM_011515753.1:c.3225+149_3225+150delinsAT	XP_011514055.1:n.3225+149_3225+150delinsAT
XM_011515754.1:c.3225+149_3225+150delinsAT	XP_011514056.1:n.3225+149_3225+150delinsAT
NM_000492.4:c.3468+149_3468+150delinsAT MANE Select	NP_000483.3:n.3468+149_3468+150delinsAT