Canonical Allele Identifier: CA1737384655
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610523_117610524delinsTA , CM000669.2:g.117610523_117610524delinsTA GRCh38
NC_000007.13:g.117250577_117250578delinsTA , CM000669.1:g.117250577_117250578delinsTA GRCh37
NC_000007.12:g.117037813_117037814delinsTA NCBI36
NG_016465.4:g.149740_149741delinsTA , LRG_663:g.149740_149741delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2993_2994delinsTA ENSP00000497673.2:p.Leu998=
ENST00000647978.2:c.*2707_*2708delinsTA ENSP00000497658.1:n.*2707_*2708delinsTA
ENST00000649781.2:c.2810_2811delinsTA ENSP00000497203.1:p.Leu937=
ENST00000685018.2:c.2993_2994delinsTA ENSP00000510194.2:p.Leu998=
ENST00000687278.2:c.2993_2994delinsTA ENSP00000509593.2:p.Leu998=
ENST00000699585.1:c.2993_2994delinsTA ENSP00000514456.1:p.Leu998=
ENST00000699598.1:c.2993_2994delinsTA ENSP00000514467.1:p.Leu998=
ENST00000699599.1:c.2993_2994delinsTA ENSP00000514468.1:p.Leu998=
ENST00000699600.1:c.2993_2994delinsTA ENSP00000514469.1:p.Leu998=
ENST00000699601.1:c.*1293_*1294delinsTA ENSP00000514470.1:n.*1293_*1294delinsTA
ENST00000699602.1:c.2993_2994delinsTA ENSP00000514471.1:p.Leu998=
ENST00000699604.1:c.*2817_*2818delinsTA ENSP00000514472.1:n.*2817_*2818delinsTA
ENST00000699605.1:c.2567_2568delinsTA ENSP00000514473.1:p.Leu856=
ENST00000687278.1:c.584_585delinsTA ENSP00000509593.1:p.Leu195=
ENST00000003084.11:c.2993_2994delinsTA MANE Select ENSP00000003084.6:p.Leu998=
ENST00000647720.1:c.643_644delinsTA
ENST00000648260.1:c.1775_1776delinsTA ENSP00000497957.1:p.Leu592=
ENST00000649406.1:c.2810_2811delinsTA ENSP00000497965.1:p.Leu937=
ENST00000649781.1:c.2810_2811delinsTA ENSP00000497203.1:p.Leu937=
ENST00000003084.10:c.2993_2994delinsTA ENSP00000003084.6:p.Leu998=
ENST00000426809.5:c.2903_2904delinsTA ENSP00000389119.1:p.Leu968=
NM_000492.3:c.2993_2994delinsTA , LRG_663t1:c.2993_2994delinsTA NP_000483.3:p.Leu998=
XM_011515751.1:c.3083_3084delinsTA XP_011514053.1:p.Leu1028=
XM_011515752.1:c.3083_3084delinsTA XP_011514054.1:p.Leu1028=
XM_011515753.1:c.2750_2751delinsTA XP_011514055.1:p.Leu917=
XM_011515754.1:c.2750_2751delinsTA XP_011514056.1:p.Leu917=
NM_000492.4:c.2993_2994delinsTA MANE Select NP_000483.3:p.Leu998=