Canonical Allele Identifier: CA1737344477

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480001_117480002delinsAG , CM000669.2:g.117480001_117480002delinsAG	GRCh38
NC_000007.13:g.117120055_117120056delinsAG , CM000669.1:g.117120055_117120056delinsAG	GRCh37
NC_000007.12:g.116907291_116907292delinsAG	NCBI36
NG_016465.4:g.19218_19219delinsAG , LRG_663:g.19218_19219delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.-94_-93delinsAG	ENSP00000497673.2:n.-94_-93delinsAG
ENST00000685018.2:c.-94_-93delinsAG	ENSP00000510194.2:n.-94_-93delinsAG
ENST00000687278.2:c.-94_-93delinsAG	ENSP00000509593.2:n.-94_-93delinsAG
ENST00000699585.1:c.-94_-93delinsAG	ENSP00000514456.1:n.-94_-93delinsAG
ENST00000699596.1:c.-94_-93delinsAG	ENSP00000514465.1:n.-94_-93delinsAG
ENST00000699597.1:c.-94_-93delinsAG	ENSP00000514466.1:n.-94_-93delinsAG
ENST00000699598.1:c.-94_-93delinsAG	ENSP00000514467.1:n.-94_-93delinsAG
ENST00000699599.1:c.-94_-93delinsAG	ENSP00000514468.1:n.-94_-93delinsAG
ENST00000699600.1:c.-94_-93delinsAG	ENSP00000514469.1:n.-94_-93delinsAG
ENST00000699601.1:c.-94_-93delinsAG	ENSP00000514470.1:n.-94_-93delinsAG
ENST00000699602.1:c.-94_-93delinsAG	ENSP00000514471.1:n.-94_-93delinsAG
ENST00000446805.2:c.-191+307_-191+308delinsAG	ENSP00000417012.1:n.-191+307_-191+308deli...
ENST00000673785.1:c.-406+14170_-406+14171delinsAG	ENSP00000501235.1:n.-406+14170_-406+14171...
ENST00000003084.10:c.-94_-93delinsAG	ENSP00000003084.6:n.-94_-93delinsAG
ENST00000446805.1:c.-191+307_-191+308delinsAG	ENSP00000417012.1:n.-191+307_-191+308deli...
ENST00000546407.1:n.166+4193_166+4194delinsAG
NM_000492.3:c.-94_-93delinsAG , LRG_663t1:c.-94_-93delinsAG	NP_000483.3:n.-94_-93delinsAG
XM_011515751.1:c.143+656_143+657delinsAG	XP_011514053.1:n.143+656_143+657delinsAG
XM_011515752.1:c.143+656_143+657delinsAG	XP_011514054.1:n.143+656_143+657delinsAG
XM_011515753.1:c.-191+307_-191+308delinsAG	XP_011514055.1:n.-191+307_-191+308delinsA...
XM_011515754.1:c.-518-147_-518-146delinsAG	XP_011514056.1:n.-518-147_-518-146delinsA...