Canonical Allele Identifier: CA2695208297

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531040_117531041insTA , CM000669.2:g.117531040_117531041insTA	GRCh38
NC_000007.13:g.117171094_117171095insTA , CM000669.1:g.117171094_117171095insTA	GRCh37
NC_000007.12:g.116958330_116958331insTA	NCBI36
NG_016465.4:g.70257_70258insTA , LRG_663:g.70257_70258insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.415_416insTA	ENSP00000497673.2:p.His139LeufsTer15
ENST00000647978.2:c.*312_*313insTA	ENSP00000497658.1:n.*312_*313insTA
ENST00000649781.2:c.415_416insTA	ENSP00000497203.1:p.His139LeufsTer15
ENST00000685018.2:c.415_416insTA	ENSP00000510194.2:p.His139LeufsTer15
ENST00000687278.2:c.415_416insTA	ENSP00000509593.2:p.His139LeufsTer15
ENST00000699585.1:c.415_416insTA	ENSP00000514456.1:p.His139LeufsTer15
ENST00000699596.1:c.415_416insTA	ENSP00000514465.1:p.His139LeufsTer15
ENST00000699597.1:c.415_416insTA	ENSP00000514466.1:p.His139LeufsTer15
ENST00000699598.1:c.415_416insTA	ENSP00000514467.1:p.His139LeufsTer15
ENST00000699599.1:c.415_416insTA	ENSP00000514468.1:p.His139LeufsTer15
ENST00000699600.1:c.415_416insTA	ENSP00000514469.1:p.His139LeufsTer15
ENST00000699601.1:c.415_416insTA	ENSP00000514470.1:p.His139LeufsTer15
ENST00000699602.1:c.415_416insTA	ENSP00000514471.1:p.His139LeufsTer15
ENST00000699604.1:c.*239_*240insTA	ENSP00000514472.1:n.*239_*240insTA
ENST00000699605.1:c.172_173insTA	ENSP00000514473.1:p.His58LeufsTer15
ENST00000003084.11:c.415_416insTA MANE Select	ENSP00000003084.6:p.His139LeufsTer15
ENST00000647978.1:c.*312_*313insTA	ENSP00000497658.1:n.*312_*313insTA
ENST00000648260.1:c.415_416insTA	ENSP00000497957.1:p.His139LeufsTer15
ENST00000649406.1:c.415_416insTA	ENSP00000497965.1:p.His139LeufsTer15
ENST00000649781.1:c.415_416insTA	ENSP00000497203.1:p.His139LeufsTer15
ENST00000673785.1:c.172_173insTA	ENSP00000501235.1:p.His58LeufsTer15
ENST00000003084.10:c.415_416insTA	ENSP00000003084.6:p.His139LeufsTer15
ENST00000426809.5:c.415_416insTA	ENSP00000389119.1:p.His139LeufsTer15
NM_000492.3:c.415_416insTA , LRG_663t1:c.415_416insTA	NP_000483.3:p.His139LeufsTer15
XM_011515751.1:c.505_506insTA	XP_011514053.1:p.His169LeufsTer15
XM_011515752.1:c.505_506insTA	XP_011514054.1:p.His169LeufsTer15
XM_011515753.1:c.172_173insTA	XP_011514055.1:p.His58LeufsTer15
XM_011515754.1:c.172_173insTA	XP_011514056.1:p.His58LeufsTer15
NM_000492.4:c.415_416insTA MANE Select	NP_000483.3:p.His139LeufsTer15