Canonical Allele Identifier: CA1737398634
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627585_117627589delinsTCAAC , CM000669.2:g.117627585_117627589delinsTCAAC GRCh38
NC_000007.13:g.117267639_117267643delinsTCAAC , CM000669.1:g.117267639_117267643delinsTCAAC GRCh37
NC_000007.12:g.117054875_117054879delinsTCAAC NCBI36
NG_016465.4:g.166802_166806delinsTCAAC , LRG_663:g.166802_166806delinsTCAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+15_3517+19delinsTCAAC ENSP00000497673.2:n.3517+15_3517+19delins...
ENST00000647978.2:c.*3246_*3250delinsTCAAC ENSP00000497658.1:n.*3246_*3250delinsTCAA...
ENST00000649781.2:c.3349_3353delinsTCAAC ENSP00000497203.1:p.Ser1117=
ENST00000685018.2:c.3532_3536delinsTCAAC ENSP00000510194.2:p.Ser1178=
ENST00000687278.2:c.*185_*189delinsTCAAC ENSP00000509593.2:n.*185_*189delinsTCAAC
ENST00000699585.1:c.3517+15_3517+19delinsTCAAC ENSP00000514456.1:n.3517+15_3517+19delins...
ENST00000699598.1:c.3532_3536delinsTCAAC ENSP00000514467.1:p.Ser1178=
ENST00000699599.1:c.3532_3536delinsTCAAC ENSP00000514468.1:p.Ser1178=
ENST00000699600.1:c.*193_*197delinsTCAAC ENSP00000514469.1:n.*193_*197delinsTCAAC
ENST00000699601.1:c.*1907_*1911delinsTCAAC ENSP00000514470.1:n.*1907_*1911delinsTCAA...
ENST00000699602.1:c.3526_3530delinsTCAAC ENSP00000514471.1:p.Ser1176=
ENST00000699604.1:c.*3356_*3360delinsTCAAC ENSP00000514472.1:n.*3356_*3360delinsTCAA...
ENST00000699605.1:c.3106_3110delinsTCAAC ENSP00000514473.1:p.Ser1036=
ENST00000685018.1:c.280_284delinsTCAAC ENSP00000510194.1:p.Ser94=
ENST00000687278.1:c.1319_1323delinsTCAAC ENSP00000509593.1:n.1319_1323delinsTCAAC
ENST00000689011.1:c.114_118delinsTCAAC
ENST00000003084.11:c.3532_3536delinsTCAAC MANE Select ENSP00000003084.6:p.Ser1178=
ENST00000647720.1:c.1167+15_1167+19delinsTCAAC
ENST00000648260.1:c.2314_2318delinsTCAAC ENSP00000497957.1:p.Ser772=
ENST00000649406.1:c.3349_3353delinsTCAAC ENSP00000497965.1:p.Ser1117=
ENST00000649781.1:c.3349_3353delinsTCAAC ENSP00000497203.1:p.Ser1117=
ENST00000003084.10:c.3532_3536delinsTCAAC ENSP00000003084.6:p.Ser1178=
ENST00000426809.5:c.3442_3446delinsTCAAC ENSP00000389119.1:p.Ser1148=
ENST00000468795.1:c.357_361delinsTCAAC
NM_000492.3:c.3532_3536delinsTCAAC , LRG_663t1:c.3532_3536delinsTCAAC NP_000483.3:p.Ser1178=
XM_011515751.1:c.3622_3626delinsTCAAC XP_011514053.1:p.Ser1208=
XM_011515752.1:c.3622_3626delinsTCAAC XP_011514054.1:p.Ser1208=
XM_011515753.1:c.3289_3293delinsTCAAC XP_011514055.1:p.Ser1097=
XM_011515754.1:c.3289_3293delinsTCAAC XP_011514056.1:p.Ser1097=
NM_000492.4:c.3532_3536delinsTCAAC MANE Select NP_000483.3:p.Ser1178=