Canonical Allele Identifier: CA1737370598

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548827_117548839delinsGTTCTTTTGTTCT , CM000669.2:g.117548827_117548839delinsGTTCTTTTGTTCT	GRCh38
NC_000007.13:g.117188881_117188893delinsGTTCTTTTGTTCT , CM000669.1:g.117188881_117188893delinsGTTCTTTTGTTCT	GRCh37
NC_000007.12:g.116976117_116976129delinsGTTCTTTTGTTCT	NCBI36
NG_016465.4:g.88044_88056delinsGTTCTTTTGTTCT , LRG_663:g.88044_88056delinsGTTCTTTTGTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497673.2:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000647978.2:c.*1106+6719_*1106+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497658.1:n.*1106+6719_*1106+6731delinsGTTCTTTTGTTCT
ENST00000649781.2:c.1209+6719_1209+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497203.1:n.1209+6719_1209+6731delinsGTTCTTTTGTTCT
ENST00000685018.2:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000510194.2:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000687278.2:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000509593.2:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699585.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514456.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699596.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514465.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699597.1:c.1387+9_1387+21delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514466.1:n.1387+9_1387+21delinsGTTCTTTTGTTCT
ENST00000699598.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514467.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699599.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514468.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699600.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514469.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699601.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514470.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699602.1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514471.1:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000699604.1:c.*1216+4_*1216+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514472.1:n.*1216+4_*1216+16delinsGTTCTTTTGTTCT
ENST00000699605.1:c.966+6719_966+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000514473.1:n.966+6719_966+6731delinsGTTCTTTTGTTCT
ENST00000003084.11:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR) MANE Select	ENSP00000003084.6:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000647978.1:c.*1106+6719_*1106+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497658.1:n.*1106+6719_*1106+6731delinsGTTCTTTTGTTCT
ENST00000648260.1:c.1209+6719_1209+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497957.1:n.1209+6719_1209+6731delinsGTTCTTTTGTTCT
ENST00000649406.1:c.1209+6719_1209+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497965.1:n.1209+6719_1209+6731delinsGTTCTTTTGTTCT
ENST00000649781.1:c.1209+6719_1209+6731delinsGTTCTTTTGTTCT (CFTR)	ENSP00000497203.1:n.1209+6719_1209+6731delinsGTTCTTTTGTTCT
ENST00000003084.10:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000003084.6:n.1392+4_1392+16delinsGTTCTTTTGTTCT
ENST00000426809.5:c.1302+4_1302+16delinsGTTCTTTTGTTCT (CFTR)	ENSP00000389119.1:n.1302+4_1302+16delinsGTTCTTTTGTTCT
NM_000492.3:c.1392+4_1392+16delinsGTTCTTTTGTTCT , LRG_663t1:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR)	NP_000483.3:n.1392+4_1392+16delinsGTTCTTTTGTTCT
XM_011515751.1:c.1482+4_1482+16delinsGTTCTTTTGTTCT (CFTR)	XP_011514053.1:n.1482+4_1482+16delinsGTTCTTTTGTTCT
XM_011515752.1:c.1482+4_1482+16delinsGTTCTTTTGTTCT (CFTR)	XP_011514054.1:n.1482+4_1482+16delinsGTTCTTTTGTTCT
XM_011515753.1:c.1149+4_1149+16delinsGTTCTTTTGTTCT (CFTR)	XP_011514055.1:n.1149+4_1149+16delinsGTTCTTTTGTTCT
XM_011515754.1:c.1149+4_1149+16delinsGTTCTTTTGTTCT (CFTR)	XP_011514056.1:n.1149+4_1149+16delinsGTTCTTTTGTTCT
NR_149084.1:n.222-6300_222-6288delinsAGAACAAAAGAAC (CFTR-AS1)
NM_000492.4:c.1392+4_1392+16delinsGTTCTTTTGTTCT (CFTR) MANE Select	NP_000483.3:n.1392+4_1392+16delinsGTTCTTTTGTTCT