Canonical Allele Identifier: CA1737344564

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480081_117480104delinsGCGCCCGAGAGACCATGCAGAGGT , CM000669.2:g.117480081_117480104delinsGCGCCCGAGAGACCATGCAGAGGT	GRCh38
NC_000007.13:g.117120135_117120158delinsGCGCCCGAGAGACCATGCAGAGGT , CM000669.1:g.117120135_117120158delinsGCGCCCGAGAGACCATGCAGAGGT	GRCh37
NC_000007.12:g.116907371_116907394delinsGCGCCCGAGAGACCATGCAGAGGT	NCBI36
NG_016465.4:g.19298_19321delinsGCGCCCGAGAGACCATGCAGAGGT , LRG_663:g.19298_19321delinsGCGCCCGAGAGACCATGCAGAGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000647978.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000649781.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000649850.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000685018.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000687278.2:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000692802.2:n.71_94delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000693465.2:n.72_95delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000693480.2:n.71_94delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699585.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699596.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699597.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699598.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699599.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699600.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699601.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699602.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699603.1:n.71_94delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699604.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000699605.1:c.-366_-343delinsGCGCCCGAGAGACCATGCAGAGGT	ENSP00000514473.1:n.-366_-343delinsGCGCCC...
ENST00000446805.2:c.-191+387_-191+410delinsGCGCCCGAGAGACCATGCAGAGGT	ENSP00000417012.1:n.-191+387_-191+410deli...
ENST00000692802.1:n.57_80delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000693465.1:n.57_80delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000693480.1:n.57_80delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000003084.11:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000647639.1:n.71_94delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000647978.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000648260.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000649406.1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000649850.1:n.70_93delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000673785.1:c.-406+14250_-406+14273delinsGCGCCCGAGAGACCATGCAGAGGT	ENSP00000501235.1:n.-406+14250_-406+14273...
ENST00000003084.10:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
ENST00000446805.1:c.-191+387_-191+410delinsGCGCCCGAGAGACCATGCAGAGGT	ENSP00000417012.1:n.-191+387_-191+410deli...
ENST00000546407.1:n.166+4273_166+4296delinsGCGCCCGAGAGACCATGCAGAGGT
NM_000492.3:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT , LRG_663t1:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT
XM_011515751.1:c.143+736_143+759delinsGCGCCCGAGAGACCATGCAGAGGT	XP_011514053.1:n.143+736_143+759delinsGCG...
XM_011515752.1:c.143+736_143+759delinsGCGCCCGAGAGACCATGCAGAGGT	XP_011514054.1:n.143+736_143+759delinsGCG...
XM_011515753.1:c.-191+387_-191+410delinsGCGCCCGAGAGACCATGCAGAGGT	XP_011514055.1:n.-191+387_-191+410delinsG...
XM_011515754.1:c.-518-67_-518-44delinsGCGCCCGAGAGACCATGCAGAGGT	XP_011514056.1:n.-518-67_-518-44delinsGCG...
NM_000492.4:c.-14_10delinsGCGCCCGAGAGACCATGCAGAGGT