Canonical Allele Identifier: CA1737398592
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627506_117627509delinsGTTA , CM000669.2:g.117627506_117627509delinsGTTA GRCh38
NC_000007.13:g.117267560_117267563delinsGTTA , CM000669.1:g.117267560_117267563delinsGTTA GRCh37
NC_000007.12:g.117054796_117054799delinsGTTA NCBI36
NG_016465.4:g.166723_166726delinsGTTA , LRG_663:g.166723_166726delinsGTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3469-16_3469-13delinsGTTA ENSP00000497673.2:n.3469-16_3469-13delins...
ENST00000647978.2:c.*3183-16_*3183-13delinsGTTA ENSP00000497658.1:n.*3183-16_*3183-13deli...
ENST00000649781.2:c.3286-16_3286-13delinsGTTA ENSP00000497203.1:n.3286-16_3286-13delins...
ENST00000685018.2:c.3469-16_3469-13delinsGTTA ENSP00000510194.2:n.3469-16_3469-13delins...
ENST00000687278.2:c.*122-16_*122-13delinsGTTA ENSP00000509593.2:n.*122-16_*122-13delins...
ENST00000699585.1:c.3469-16_3469-13delinsGTTA ENSP00000514456.1:n.3469-16_3469-13delins...
ENST00000699598.1:c.3469-16_3469-13delinsGTTA ENSP00000514467.1:n.3469-16_3469-13delins...
ENST00000699599.1:c.3469-16_3469-13delinsGTTA ENSP00000514468.1:n.3469-16_3469-13delins...
ENST00000699600.1:c.*130-16_*130-13delinsGTTA ENSP00000514469.1:n.*130-16_*130-13delins...
ENST00000699601.1:c.*1844-16_*1844-13delinsGTTA ENSP00000514470.1:n.*1844-16_*1844-13deli...
ENST00000699602.1:c.3463-16_3463-13delinsGTTA ENSP00000514471.1:n.3463-16_3463-13delins...
ENST00000699604.1:c.*3293-16_*3293-13delinsGTTA ENSP00000514472.1:n.*3293-16_*3293-13deli...
ENST00000699605.1:c.3043-16_3043-13delinsGTTA ENSP00000514473.1:n.3043-16_3043-13delins...
ENST00000685018.1:c.217-16_217-13delinsGTTA ENSP00000510194.1:n.217-16_217-13delinsGT...
ENST00000687278.1:c.1256-16_1256-13delinsGTTA ENSP00000509593.1:n.1256-16_1256-13delins...
ENST00000689011.1:c.51-16_51-13delinsGTTA
ENST00000003084.11:c.3469-16_3469-13delinsGTTA MANE Select ENSP00000003084.6:n.3469-16_3469-13delins...
ENST00000647720.1:c.1119-16_1119-13delinsGTTA
ENST00000648260.1:c.2251-16_2251-13delinsGTTA ENSP00000497957.1:n.2251-16_2251-13delins...
ENST00000649406.1:c.3286-16_3286-13delinsGTTA ENSP00000497965.1:n.3286-16_3286-13delins...
ENST00000649781.1:c.3286-16_3286-13delinsGTTA ENSP00000497203.1:n.3286-16_3286-13delins...
ENST00000003084.10:c.3469-16_3469-13delinsGTTA ENSP00000003084.6:n.3469-16_3469-13delins...
ENST00000426809.5:c.3379-16_3379-13delinsGTTA ENSP00000389119.1:n.3379-16_3379-13delins...
ENST00000468795.1:c.294-16_294-13delinsGTTA
NM_000492.3:c.3469-16_3469-13delinsGTTA , LRG_663t1:c.3469-16_3469-13delinsGTTA NP_000483.3:n.3469-16_3469-13delinsGTTA
XM_011515751.1:c.3559-16_3559-13delinsGTTA XP_011514053.1:n.3559-16_3559-13delinsGTT...
XM_011515752.1:c.3559-16_3559-13delinsGTTA XP_011514054.1:n.3559-16_3559-13delinsGTT...
XM_011515753.1:c.3226-16_3226-13delinsGTTA XP_011514055.1:n.3226-16_3226-13delinsGTT...
XM_011515754.1:c.3226-16_3226-13delinsGTTA XP_011514056.1:n.3226-16_3226-13delinsGTT...
NM_000492.4:c.3469-16_3469-13delinsGTTA MANE Select NP_000483.3:n.3469-16_3469-13delinsGTTA