Canonical Allele Identifier: CA2695208332

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590387_117590392delinsAA , CM000669.2:g.117590387_117590392delinsAA	GRCh38
NC_000007.13:g.117230441_117230446delinsAA , CM000669.1:g.117230441_117230446delinsAA	GRCh37
NC_000007.12:g.117017677_117017682delinsAA	NCBI36
NG_016465.4:g.129604_129609delinsAA , LRG_663:g.129604_129609delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1714_1719delinsAA	ENSP00000497673.2:p.Asp572AsnfsTer6
ENST00000647978.2:c.*1428_*1433delinsAA	ENSP00000497658.1:n.*1428_*1433delinsAA
ENST00000649781.2:c.1531_1536delinsAA	ENSP00000497203.1:p.Asp511AsnfsTer6
ENST00000685018.2:c.1714_1719delinsAA	ENSP00000510194.2:p.Asp572AsnfsTer6
ENST00000687278.2:c.1714_1719delinsAA	ENSP00000509593.2:p.Asp572AsnfsTer6
ENST00000699585.1:c.1714_1719delinsAA	ENSP00000514456.1:p.Asp572AsnfsTer6
ENST00000699598.1:c.1714_1719delinsAA	ENSP00000514467.1:p.Asp572AsnfsTer6
ENST00000699599.1:c.1714_1719delinsAA	ENSP00000514468.1:p.Asp572AsnfsTer6
ENST00000699600.1:c.1714_1719delinsAA	ENSP00000514469.1:p.Asp572AsnfsTer6
ENST00000699601.1:c.*14_*19delinsAA	ENSP00000514470.1:n.*14_*19delinsAA
ENST00000699602.1:c.1714_1719delinsAA	ENSP00000514471.1:p.Asp572AsnfsTer6
ENST00000699604.1:c.*1538_*1543delinsAA	ENSP00000514472.1:n.*1538_*1543delinsAA
ENST00000699605.1:c.1288_1293delinsAA	ENSP00000514473.1:p.Asp430AsnfsTer6
ENST00000003084.11:c.1714_1719delinsAA MANE Select	ENSP00000003084.6:p.Asp572AsnfsTer6
ENST00000647978.1:c.*1428_*1433delinsAA	ENSP00000497658.1:n.*1428_*1433delinsAA
ENST00000648260.1:c.1402-12439_1402-12434delinsAA	ENSP00000497957.1:n.1402-12439_1402-12434delinsAA
ENST00000649406.1:c.1531_1536delinsAA	ENSP00000497965.1:p.Asp511AsnfsTer6
ENST00000649781.1:c.1531_1536delinsAA	ENSP00000497203.1:p.Asp511AsnfsTer6
ENST00000003084.10:c.1714_1719delinsAA	ENSP00000003084.6:p.Asp572AsnfsTer6
ENST00000426809.5:c.1624_1629delinsAA	ENSP00000389119.1:p.Asp542AsnfsTer6
NM_000492.3:c.1714_1719delinsAA , LRG_663t1:c.1714_1719delinsAA	NP_000483.3:p.Asp572AsnfsTer6
XM_011515751.1:c.1804_1809delinsAA	XP_011514053.1:p.Asp602AsnfsTer6
XM_011515752.1:c.1804_1809delinsAA	XP_011514054.1:p.Asp602AsnfsTer6
XM_011515753.1:c.1471_1476delinsAA	XP_011514055.1:p.Asp491AsnfsTer6
XM_011515754.1:c.1471_1476delinsAA	XP_011514056.1:p.Asp491AsnfsTer6
NM_000492.4:c.1714_1719delinsAA MANE Select	NP_000483.3:p.Asp572AsnfsTer6