Canonical Allele Identifier: CA1737392352

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614859_117614882delinsGTCATTAAATCCTTATCTCTTCTT , CM000669.2:g.117614859_117614882delinsGTCATTAAATCCTTATCTCTTCTT	GRCh38
NC_000007.13:g.117254913_117254936delinsGTCATTAAATCCTTATCTCTTCTT , CM000669.1:g.117254913_117254936delinsGTCATTAAATCCTTATCTCTTCTT	GRCh37
NC_000007.12:g.117042149_117042172delinsGTCATTAAATCCTTATCTCTTCTT	NCBI36
NG_016465.4:g.154076_154099delinsGTCATTAAATCCTTATCTCTTCTT , LRG_663:g.154076_154099delinsGTCATTAAATCCTTATCTCTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497673.2:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000647978.2:c.*3182+146_*3182+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497658.1:n.*3182+146_*3182+169delinsGTCATTAAATCCTTAT...
ENST00000649781.2:c.3285+146_3285+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497203.1:n.3285+146_3285+169delinsGTCATTAAATCCTTATCT...
ENST00000685018.2:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000510194.2:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000687278.2:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000509593.2:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000699585.1:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514456.1:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000699598.1:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514467.1:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000699599.1:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514468.1:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000699600.1:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514469.1:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000699601.1:c.*1843+146_*1843+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514470.1:n.*1843+146_*1843+169delinsGTCATTAAATCCTTAT...
ENST00000699602.1:c.3462+146_3462+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514471.1:n.3462+146_3462+169delinsGTCATTAAATCCTTATCT...
ENST00000699604.1:c.*3292+146_*3292+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514472.1:n.*3292+146_*3292+169delinsGTCATTAAATCCTTAT...
ENST00000699605.1:c.3042+146_3042+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000514473.1:n.3042+146_3042+169delinsGTCATTAAATCCTTATCT...
ENST00000685018.1:c.216+146_216+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000510194.1:n.216+146_216+169delinsGTCATTAAATCCTTATCTCT...
ENST00000687278.1:c.1059+146_1059+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000509593.1:n.1059+146_1059+169delinsGTCATTAAATCCTTATCT...
ENST00000689011.1:c.50+146_50+169delinsGTCATTAAATCCTTATCTCTTCTT
ENST00000003084.11:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT MANE Select	ENSP00000003084.6:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000647720.1:c.1118+146_1118+169delinsGTCATTAAATCCTTATCTCTTCTT
ENST00000648260.1:c.2250+146_2250+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497957.1:n.2250+146_2250+169delinsGTCATTAAATCCTTATCT...
ENST00000649406.1:c.3285+146_3285+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497965.1:n.3285+146_3285+169delinsGTCATTAAATCCTTATCT...
ENST00000649781.1:c.3285+146_3285+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000497203.1:n.3285+146_3285+169delinsGTCATTAAATCCTTATCT...
ENST00000003084.10:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000003084.6:n.3468+146_3468+169delinsGTCATTAAATCCTTATCT...
ENST00000426809.5:c.3378+146_3378+169delinsGTCATTAAATCCTTATCTCTTCTT	ENSP00000389119.1:n.3378+146_3378+169delinsGTCATTAAATCCTTATCT...
ENST00000468795.1:c.293+146_293+169delinsGTCATTAAATCCTTATCTCTTCTT
NM_000492.3:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT , LRG_663t1:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT	NP_000483.3:n.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT...
XM_011515751.1:c.3558+146_3558+169delinsGTCATTAAATCCTTATCTCTTCTT	XP_011514053.1:n.3558+146_3558+169delinsGTCATTAAATCCTTATCTCTT...
XM_011515752.1:c.3558+146_3558+169delinsGTCATTAAATCCTTATCTCTTCTT	XP_011514054.1:n.3558+146_3558+169delinsGTCATTAAATCCTTATCTCTT...
XM_011515753.1:c.3225+146_3225+169delinsGTCATTAAATCCTTATCTCTTCTT	XP_011514055.1:n.3225+146_3225+169delinsGTCATTAAATCCTTATCTCTT...
XM_011515754.1:c.3225+146_3225+169delinsGTCATTAAATCCTTATCTCTTCTT	XP_011514056.1:n.3225+146_3225+169delinsGTCATTAAATCCTTATCTCTT...
NM_000492.4:c.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT MANE Select	NP_000483.3:n.3468+146_3468+169delinsGTCATTAAATCCTTATCTCTTCTT...