Canonical Allele Identifier: CA2695208327

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559594_117559605del , CM000669.2:g.117559594_117559605del	GRCh38
NC_000007.13:g.117199648_117199659del , CM000669.1:g.117199648_117199659del	GRCh37
NC_000007.12:g.116986884_116986895del	NCBI36
NG_016465.4:g.98811_98822del , LRG_663:g.98811_98822del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1523_1534del (CFTR)	ENSP00000497673.2:p.Phe508_Ser511del
ENST00000647978.2:c.*1237_*1248del (CFTR)	ENSP00000497658.1:n.*1237_*1248del
ENST00000649781.2:c.1340_1351del (CFTR)	ENSP00000497203.1:p.Phe447_Ser450del
ENST00000685018.2:c.1523_1534del (CFTR)	ENSP00000510194.2:p.Phe508_Ser511del
ENST00000687278.2:c.1523_1534del (CFTR)	ENSP00000509593.2:p.Phe508_Ser511del
ENST00000699585.1:c.1523_1534del (CFTR)	ENSP00000514456.1:p.Phe508_Ser511del
ENST00000699596.1:c.1523_1534del (CFTR)	ENSP00000514465.1:p.Phe508_Ser511del
ENST00000699597.1:c.*81_*92del (CFTR)	ENSP00000514466.1:n.*81_*92del
ENST00000699598.1:c.1523_1534del (CFTR)	ENSP00000514467.1:p.Phe508_Ser511del
ENST00000699599.1:c.1523_1534del (CFTR)	ENSP00000514468.1:p.Phe508_Ser511del
ENST00000699600.1:c.1523_1534del (CFTR)	ENSP00000514469.1:p.Phe508_Ser511del
ENST00000699601.1:c.1523_1534del (CFTR)	ENSP00000514470.1:p.Phe508_Ser511del
ENST00000699602.1:c.1523_1534del (CFTR)	ENSP00000514471.1:p.Phe508_Ser511del
ENST00000699604.1:c.*1347_*1358del (CFTR)	ENSP00000514472.1:n.*1347_*1358del
ENST00000699605.1:c.1097_1108del (CFTR)	ENSP00000514473.1:p.Phe366_Ser369del
ENST00000003084.11:c.1523_1534del (CFTR) MANE Select	ENSP00000003084.6:p.Phe508_Ser511del
ENST00000647978.1:c.*1237_*1248del (CFTR)	ENSP00000497658.1:n.*1237_*1248del
ENST00000648260.1:c.1340_1351del (CFTR)	ENSP00000497957.1:p.Phe447_Ser450del
ENST00000649406.1:c.1340_1351del (CFTR)	ENSP00000497965.1:p.Phe447_Ser450del
ENST00000649781.1:c.1340_1351del (CFTR)	ENSP00000497203.1:p.Phe447_Ser450del
ENST00000003084.10:c.1523_1534del (CFTR)	ENSP00000003084.6:p.Phe508_Ser511del
ENST00000426809.5:c.1433_1444del (CFTR)	ENSP00000389119.1:p.Phe478_Ser481del
NM_000492.3:c.1523_1534del , LRG_663t1:c.1523_1534del (CFTR)	NP_000483.3:p.Phe508_Ser511del
XM_011515751.1:c.1613_1624del (CFTR)	XP_011514053.1:p.Phe538_Ser541del
XM_011515752.1:c.1613_1624del (CFTR)	XP_011514054.1:p.Phe538_Ser541del
XM_011515753.1:c.1280_1291del (CFTR)	XP_011514055.1:p.Phe427_Ser430del
XM_011515754.1:c.1280_1291del (CFTR)	XP_011514056.1:p.Phe427_Ser430del
NR_149084.1:n.221+1130_221+1141del (CFTR-AS1)
NM_000492.4:c.1523_1534del (CFTR) MANE Select	NP_000483.3:p.Phe508_Ser511del