Canonical Allele Identifier: CA1737370636

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548834_117548835delinsTG , CM000669.2:g.117548834_117548835delinsTG	GRCh38
NC_000007.13:g.117188888_117188889delinsTG , CM000669.1:g.117188888_117188889delinsTG	GRCh37
NC_000007.12:g.116976124_116976125delinsTG	NCBI36
NG_016465.4:g.88051_88052delinsTG , LRG_663:g.88051_88052delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000497673.2:n.1392+11_1392+12delinsTG
ENST00000647978.2:c.*1106+6726_*1106+6727delinsTG (CFTR)	ENSP00000497658.1:n.*1106+6726_*1106+6727delinsTG
ENST00000649781.2:c.1209+6726_1209+6727delinsTG (CFTR)	ENSP00000497203.1:n.1209+6726_1209+6727delinsTG
ENST00000685018.2:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000510194.2:n.1392+11_1392+12delinsTG
ENST00000687278.2:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000509593.2:n.1392+11_1392+12delinsTG
ENST00000699585.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514456.1:n.1392+11_1392+12delinsTG
ENST00000699596.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514465.1:n.1392+11_1392+12delinsTG
ENST00000699597.1:c.1387+16_1387+17delinsTG (CFTR)	ENSP00000514466.1:n.1387+16_1387+17delinsTG
ENST00000699598.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514467.1:n.1392+11_1392+12delinsTG
ENST00000699599.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514468.1:n.1392+11_1392+12delinsTG
ENST00000699600.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514469.1:n.1392+11_1392+12delinsTG
ENST00000699601.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514470.1:n.1392+11_1392+12delinsTG
ENST00000699602.1:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000514471.1:n.1392+11_1392+12delinsTG
ENST00000699604.1:c.*1216+11_*1216+12delinsTG (CFTR)	ENSP00000514472.1:n.*1216+11_*1216+12delinsTG
ENST00000699605.1:c.966+6726_966+6727delinsTG (CFTR)	ENSP00000514473.1:n.966+6726_966+6727delinsTG
ENST00000003084.11:c.1392+11_1392+12delinsTG (CFTR) MANE Select	ENSP00000003084.6:n.1392+11_1392+12delinsTG
ENST00000647978.1:c.*1106+6726_*1106+6727delinsTG (CFTR)	ENSP00000497658.1:n.*1106+6726_*1106+6727delinsTG
ENST00000648260.1:c.1209+6726_1209+6727delinsTG (CFTR)	ENSP00000497957.1:n.1209+6726_1209+6727delinsTG
ENST00000649406.1:c.1209+6726_1209+6727delinsTG (CFTR)	ENSP00000497965.1:n.1209+6726_1209+6727delinsTG
ENST00000649781.1:c.1209+6726_1209+6727delinsTG (CFTR)	ENSP00000497203.1:n.1209+6726_1209+6727delinsTG
ENST00000003084.10:c.1392+11_1392+12delinsTG (CFTR)	ENSP00000003084.6:n.1392+11_1392+12delinsTG
ENST00000426809.5:c.1302+11_1302+12delinsTG (CFTR)	ENSP00000389119.1:n.1302+11_1302+12delinsTG
NM_000492.3:c.1392+11_1392+12delinsTG , LRG_663t1:c.1392+11_1392+12delinsTG (CFTR)	NP_000483.3:n.1392+11_1392+12delinsTG
XM_011515751.1:c.1482+11_1482+12delinsTG (CFTR)	XP_011514053.1:n.1482+11_1482+12delinsTG
XM_011515752.1:c.1482+11_1482+12delinsTG (CFTR)	XP_011514054.1:n.1482+11_1482+12delinsTG
XM_011515753.1:c.1149+11_1149+12delinsTG (CFTR)	XP_011514055.1:n.1149+11_1149+12delinsTG
XM_011515754.1:c.1149+11_1149+12delinsTG (CFTR)	XP_011514056.1:n.1149+11_1149+12delinsTG
NR_149084.1:n.222-6296_222-6295delinsCA (CFTR-AS1)
NM_000492.4:c.1392+11_1392+12delinsTG (CFTR) MANE Select	NP_000483.3:n.1392+11_1392+12delinsTG