Canonical Allele Identifier: CA2579000011

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559603_117559604insTGAAAC , CM000669.2:g.117559603_117559604insTGAAAC	GRCh38
NC_000007.13:g.117199657_117199658insTGAAAC , CM000669.1:g.117199657_117199658insTGAAAC	GRCh37
NC_000007.12:g.116986893_116986894insTGAAAC	NCBI36
NG_016465.4:g.98820_98821insTGAAAC , LRG_663:g.98820_98821insTGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1532_1533insTGAAAC (CFTR)	ENSP00000497673.2:p.Ser511_Tyr512insGluThr
ENST00000647978.2:c.*1246_*1247insTGAAAC (CFTR)	ENSP00000497658.1:n.*1246_*1247insTGAAAC
ENST00000649781.2:c.1349_1350insTGAAAC (CFTR)	ENSP00000497203.1:p.Ser450_Tyr451insGluThr
ENST00000685018.2:c.1532_1533insTGAAAC (CFTR)	ENSP00000510194.2:p.Ser511_Tyr512insGluThr
ENST00000687278.2:c.1532_1533insTGAAAC (CFTR)	ENSP00000509593.2:p.Ser511_Tyr512insGluThr
ENST00000699585.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514456.1:p.Ser511_Tyr512insGluThr
ENST00000699596.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514465.1:p.Ser511_Tyr512insGluThr
ENST00000699597.1:c.*90_*91insTGAAAC (CFTR)	ENSP00000514466.1:n.*90_*91insTGAAAC
ENST00000699598.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514467.1:p.Ser511_Tyr512insGluThr
ENST00000699599.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514468.1:p.Ser511_Tyr512insGluThr
ENST00000699600.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514469.1:p.Ser511_Tyr512insGluThr
ENST00000699601.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514470.1:p.Ser511_Tyr512insGluThr
ENST00000699602.1:c.1532_1533insTGAAAC (CFTR)	ENSP00000514471.1:p.Ser511_Tyr512insGluThr
ENST00000699604.1:c.*1356_*1357insTGAAAC (CFTR)	ENSP00000514472.1:n.*1356_*1357insTGAAAC
ENST00000699605.1:c.1106_1107insTGAAAC (CFTR)	ENSP00000514473.1:p.Ser369_Tyr370insGluThr
ENST00000003084.11:c.1532_1533insTGAAAC (CFTR) MANE Select	ENSP00000003084.6:p.Ser511_Tyr512insGluThr
ENST00000647978.1:c.*1246_*1247insTGAAAC (CFTR)	ENSP00000497658.1:n.*1246_*1247insTGAAAC
ENST00000648260.1:c.1349_1350insTGAAAC (CFTR)	ENSP00000497957.1:p.Ser450_Tyr451insGluThr
ENST00000649406.1:c.1349_1350insTGAAAC (CFTR)	ENSP00000497965.1:p.Ser450_Tyr451insGluThr
ENST00000649781.1:c.1349_1350insTGAAAC (CFTR)	ENSP00000497203.1:p.Ser450_Tyr451insGluThr
ENST00000003084.10:c.1532_1533insTGAAAC (CFTR)	ENSP00000003084.6:p.Ser511_Tyr512insGluThr
ENST00000426809.5:c.1442_1443insTGAAAC (CFTR)	ENSP00000389119.1:p.Ser481_Tyr482insGluThr
NM_000492.3:c.1532_1533insTGAAAC , LRG_663t1:c.1532_1533insTGAAAC (CFTR)	NP_000483.3:p.Ser511_Tyr512insGluThr
XM_011515751.1:c.1622_1623insTGAAAC (CFTR)	XP_011514053.1:p.Ser541_Tyr542insGluThr
XM_011515752.1:c.1622_1623insTGAAAC (CFTR)	XP_011514054.1:p.Ser541_Tyr542insGluThr
XM_011515753.1:c.1289_1290insTGAAAC (CFTR)	XP_011514055.1:p.Ser430_Tyr431insGluThr
XM_011515754.1:c.1289_1290insTGAAAC (CFTR)	XP_011514056.1:p.Ser430_Tyr431insGluThr
NR_149084.1:n.221+1130_221+1131insTTTCAG (CFTR-AS1)
NM_000492.4:c.1532_1533insTGAAAC (CFTR) MANE Select	NP_000483.3:p.Ser511_Tyr512insGluThr